CHU Liège : Gene Panel - v4 (859 genes)

Fraction of Length Overlapping Gene (HGNC) OMIM (gene) OMIM (disease) OMIM (phenotype) Average Read Depth (X) Fraction of Length Covered Above 30x (%) Technical Validation (%) A2ML1 610627 - Vissers et al., EJHG 2015 : Noonan syndrome 65,65 96,13% 92,89% ABCC9 601439 239850 Hypertrichotic osteochondrodysplasia 58,48 92,64% 87,53% ABCD1 300371 300100 Adrenoleukodystrophy 104,21 74,13% 69,46% ABHD5 604780 275630 Chanarin-Dorfman syndrome 71,64 94,90% 91,65% ACAD9 611103 611126 Mitochondrial complex I deficiency due to ACAD9 deficiency 100,90 97,33% 93,50% ACO2 100850 614559 Infantile cerebellar-retinal degeneration 110,23 90,28% 54,79% ACOX1 609751 264470 Peroxisomal acyl-CoA oxidase deficiency 83,83 97,35% 93,84% ACSL4 300157 300387 Mental retardation, X-linked 63 63,78 82,35% 91,42% ACTB 102630 243310 Baraitser-Winter syndrome 1 210,02 100,00% 0,39% ACTG1 102560 614583 Baraitser-Winter syndrome 2 188,96 100,00% 0,39% ACY1 104620 609924 Aminoacylase 1 deficiency 125,74 98,54% 92,53% ADAR 146920 615010 Aicardi-Goutieres syndrome 6 96,96 99,38% 89,64% ADAT3 615302 615286 Mental retardation, autosomal recessive 36 132,99 100,00% 99,56% ADGRG1 604110 606854 , bilateral frontoparietal 138,29 99,94% 92,00% ADK 102750 614300 Hypermethioninemia due to adenosine kinase deficiency 47,21 79,42% 95,55% ADNP 611386 615873 Helsmoortel-van der Aa syndrome 86,80 99,65% 97,05% ADSL 608222 103050 Adenylosuccinase deficiency 87,92 95,35% 92,79% AFF2 300806 309548 Mental retardation, X-linked, FRAXE type 67,89 90,80% 95,39% AGA 613228 208400 Aspartylglucosaminuria 83,80 98,21% 98,76% AGPAT2 603100 608594 Lipodystrophy, congenital generalized, type 1 120,08 97,44% 80,30% Hypermethioninemia with deficiency of S- AHCY 180960 613752 124,67 93,78% 51,92% adenosylhomocysteine hydrolase AHDC1 615790 615829 Xia-Gibbs syndrome 166,85 98,89% 97,00% AHI1 608894 608629 Joubert syndrome 3 51,67 78,43% 90,47% AIMP1 603605 260600 Leukodystrophy, hypomyelinating, 3 41,54 60,26% 87,82% Megalencephaly-polymicrogyria-polydactyly-hydrocephalus AKT3 611223 615937 44,36 83,03% 90,10% syndrome 2 ALDH18A1 138250 219150 Cutis laxa, autosomal recessive, type IIIA 73,60 97,07% 91,31% ALDH3A2 609523 270200 Sjogren-Larsson syndrome 56,43 89,20% 87,78% ALDH4A1 606811 239510 Hyperprolinemia, type II 106,43 98,03% 94,84% ALDH5A1 610045 271980 Succinic semialdehyde dehydrogenase deficiency 65,06 84,39% 96,52% ALDH7A1 107323 266100 Epilepsy, pyridoxine-dependent 50,39 76,63% 66,57% ALG1 605907 608540 Congenital disorder of glycosylation, type Ik 64,17 58,69% 39,17% ALG11 613666 613661 Congenital disorder of glycosylation, type Ip 64,15 96,32% 95,22% ALG12 607144 607143 Congenital disorder of glycosylation, type Ig 147,22 99,86% 85,28% ALG13 300776 300884 Epileptic encephalopathy, early infantile, 36 54,84 77,03% 89,33% ALG2 607905 616228 Myasthenic syndrome, congenital, 14, with tubular aggregates 71,84 98,76% 98,55% ALG3 608750 601110 Congenital disorder of glycosylation, type Id 99,04 98,84% 96,12% ALG6 604566 603147 Congenital disorder of glycosylation, type Ic 47,66 81,03% 88,41% ALG9 606941 263210 Gillessen-Kaesbach-Nishimura syndrome 52,59 83,83% 87,50% ALMS1 606844 203800 Alstrom syndrome 113,65 97,25% 87,58% ALX1 601527 613456 Frontonasal dysplasia 3 64,71 91,43% 87,52% ALX4 605420 613451 Frontonasal dysplasia 2 152,05 99,53% 92,66% AMER1 300647 300373 Osteopathia striata with cranial sclerosis 113,55 99,12% 99,94% AMPD2 102771 615809 Pontocerebellar hypoplasia, type 9 132,77 99,07% 87,38% AMT 238310 605899 Glycine encephalopathy 151,33 100,00% 95,58% ANK3 600465 615493 Mental retardation, autosomal recessive, 37 73,94 97,11% 98,03% ANKH 605145 123000 Craniometaphyseal dysplasia 87,17 98,04% 89,64% ANKRD11 611192 148050 KBG syndrome 137,63 99,78% 86,98% AP1S1 603531 609313 MEDNIK syndrome 107,38 99,15% 95,79% AP1S2 300629 304340 Mental retardation, X-linked syndromic 5 38,51 56,32% 63,56% AP4B1 607245 614066 Spastic paraplegia 47, autosomal recessive 73,99 96,23% 93,32% AP4M1 602296 612936 Spastic paraplegia 50, autosomal recessive 128,58 99,25% 93,12% AP4S1 607243 614067 Spastic paraplegia 52, autosomal recessive 39,74 59,99% 55,46% Ataxia, early-onset, with oculomotor apraxia and APTX 606350 208920 77,20 87,96% 89,91% hypoalbuminemia Short stature, rhizomelic, with , micrognathia, and ARCN1 600820 617164 59,48 94,08% 93,89% developmental delay ARFGEF2 605371 608097 Periventricular heterotopia with microcephaly 70,12 92,11% 89,67% ARG1 608313 207800 Argininemia 69,63 96,39% 93,99% ARHGAP31 610911 100300 Adams-Oliver syndrome 1 122,91 98,26% 96,64% Neurodevelopmental disorder with midbrain and hindbrain ARHGEF2 607560 617523 104,42 95,37% 87,11% malformations ARHGEF9 300429 300607 Epileptic encephalopathy, early infantile, 8 57,00 79,97% 90,71% ARID1A 603024 614607 Coffin-Siris syndrome 2 126,07 96,79% 94,70% ARID1B 614556 135900 Coffin-Siris syndrome 1 112,73 98,63% 89,76% ARID2 609539 617808 Coffis-Siris syndrome 6 75,09 90,28% 94,26% ARL13B 608922 612291 Joubert syndrome 8 45,75 80,37% 75,18% ARL6 608845 600151 Bardet-Biedl syndrome 3 37,80 75,12% 91,44% ARSE 300180 302950 Chondrodysplasia punctata, X-linked recessive 82,58 85,62% 64,68% ARX 300382 300419 Mental retardation, X-linked 29 and others 58,18 73,26% 77,47% ASH1L 607999 - Okamoto et al., AJMG 2017 : MCA/ID syndrome 76,57 96,86% 96,60% ASNS 108370 615574 Asparagine synthetase deficiency 49,34 72,84% 0,00% ASPA 608034 271900 Canavan disease 45,92 76,12% 89,82% ASPM 605481 608716 Microcephaly 5, primary, autosomal recessive 67,19 93,13% 93,83% ASXL1 612990 605039 Bohring-Opitz syndrome 113,12 98,10% 96,59% ASXL3 615115 615485 Bainbridge-Ropers syndrome 82,07 96,41% 97,71% ATIC 601731 608688 AICA-ribosiduria due to ATIC deficiency 58,83 91,41% 93,67% ATP6V0A2 611716 219200 Cutis laxa, autosomal recessive, type IIA 68,74 92,75% 90,51% ATP7A 300011 309400 Menkes disease 53,46 79,60% 91,96% ATR 601215 210600 Seckel syndrome 1 63,66 87,28% 88,78% ATRIP 606605 - Ogi et al., PLoS Genet 2012 : Seckel syndrome 98,00 94,80% 90,26% ATRX 300032 309580 Mental retardation-hypotonic facies syndrome, X-linked 47,63 74,39% 91,50% AUH 600529 250950 3-methylglutaconic aciduria, type I 83,56 96,45% 99,85% AUTS2 607270 615834 Mental retardation, autosomal dominant 26 112,48 96,78% 94,73% B3GLCT 610308 261540 Peters-plus syndrome 51,64 79,76% 86,54% B4GALT1 137060 607091 Congenital disorder of glycosylation, type IId 103,06 93,35% 98,17% B4GALT7 604327 130070 Ehlers-Danlos syndrome with short stature and limb anomalies 118,86 97,44% 94,79% BBIP1 613605 615995 Bardet-Biedl syndrome 18 41,44 74,32% 72,63% BBS1 209901 209900 Bardet-Biedl syndrome 1 134,12 99,99% 88,87% BBS10 610148 615987 Bardet-Biedl syndrome 10 65,72 97,41% 97,44% BBS12 610683 615989 Bardet-Biedl syndrome 12 64,21 97,93% 98,15% BBS2 606151 615981 Bardet-Biedl syndrome 2 72,40 92,63% 93,11% BBS4 600374 615982 Bardet-Biedl syndrome 4 61,98 94,71% 92,23% BBS5 603650 615983 Bardet-Biedl syndrome 5 55,39 84,75% 94,93% BBS7 607590 615984 Bardet-Biedl syndrome 7 58,68 92,53% 95,34% BBS9 615986 615986 Bardet-Biedl syndrome 9 50,24 81,18% 85,40% BCKDHB 248611 248600 Maple syrup urine disease, type Ib 66,37 92,23% 91,43% BCL11A 606557 617101 Dias-Logan syndrome 141,72 99,36% 92,18% BCOR 300485 300166 Microphthalmia, syndromic 2 103,85 92,52% 93,11% BCS1L 603647 256000 Leigh syndrome 127,82 99,38% 86,81% BLM 210900 210900 Bloom syndrome 54,18 84,67% 88,85% BRAF 164757 613706 Noonan syndrome 7 39,92 64,23% 67,33% Intellectual developmental disorder with dysmorphic facies and BRPF1 602410 617333 142,10 99,98% 91,28% ptosis BRWD3 300553 300659 Mental retardation, X-linked 93 52,90 80,19% 92,13% BSCL2 606158 615924 Encephalopathy, progressive, with or without lipodystrophy 103,27 99,94% 94,52% BTD 609019 253260 Biotinidase deficiency 104,21 96,87% 94,35% BUB1B 602860 257300 Mosaic variegated aneuploidy syndrome 1 54,76 85,43% 91,81% Platzer et al., AJMG 2014 : RM, hypoplasie corps caleux, C12ORF57 615640 - 117,97 98,98% 82,61% colobome, épilepsie. C19ORF12 614297 614298 Neurodegeneration with brain iron accumulation 4 103,86 99,63% 79,56% C2CD3 615944 615948 Orofaciodigital syndrome XIV 77,72 94,13% 93,81% Cerebellar ataxia and mental retardation with or without CA8 114815 613227 56,23 85,06% 90,89% quadrupedal locomotion 3 CACNA1A 601011 617106 Epileptic encephalopathy, early infantile, 42 97,02 96,17% 89,87% CACNA1C 114205 601005 Timothy syndrome 125,25 98,94% 84,06% CACNA1D 114206 615474 Primary aldosteronism, seizures, and neurologic abnormalities 94,09 95,56% 90,86% CAMK2A 114078 617798 Mental retardation, autosomal dominant 53 119,55 97,21% 94,11% CAMK2B 607707 617799 Mental retardation, autosomal dominant 54 120,30 99,85% 86,37% CANT1 613165 251450 Desbuquois dysplasia 1 140,38 99,75% 90,93% Mental retardation and microcephaly with pontine and CASK 300172 300749 52,65 75,16% 93,70% cerebellar hypoplasia Partial lipodystrophy, congenital cataracts, and CAV1 601047 606721 103,51 99,74% 87,92% neurodegeneration syndrome CAVIN1 603198 613327 Lipodystrophy, congenital generalized, type 4 186,84 100,00% 96,26% Noonan syndrome-like disorder with or without juvenile CBL 165360 613563 81,39 97,20% 93,53% myelomonocytic leukemia CBS 613381 236200 Homocystinuria, B6-responsive and nonresponsive types 123,65 97,33% 79,05% CC2D1A 610055 608443 Mental retardation, autosomal recessive 3 140,28 97,78% 91,22% CC2D2A 612013 612285 Joubert syndrome 9 60,29 85,90% 89,79% CCDC22 300859 300963 Ritscher-Schinzel syndrome 2 108,23 94,15% 86,95% CCDC39 613798 613807 Ciliary dyskinesia, primary, 14 49,93 82,07% 89,55% CCDC78 614666 614807 Myopathy, centronuclear, 4 150,87 100,00% 99,82% CCDC88C 611204 236600 Hydrocephalus, nonsyndromic, autosomal recessive 122,29 98,94% 91,57% CD96 606037 211750 C syndrome 65,03 92,61% 91,35% CDC45 603465 617063 Meier-Gorlin syndrome 7 113,57 98,74% 89,22% CDC6 602627 613805 Meier-Gorlin syndrome 5 70,87 98,23% 93,87% CDH15 114019 612580 Mental retardation, autosomal dominant 3 129,63 98,56% 62,25% Congenital heart defects, dysmorphic facial features, and CDK13 603309 617360 70,43 90,52% 95,90% intellectual developmental disorder CDK5RAP2 608201 604804 Microcephaly 3, primary, autosomal recessive 72,10 95,45% 96,21% CDKL5 300203 300672 Epileptic encephalopathy, early infantile, 2 73,32 83,89% 91,84% CDON 608707 614226 Holoprosencephaly 11 72,41 95,04% 82,12% CDT1 605525 613804 Meier-Gorlin syndrome 4 136,55 99,33% 88,96% CENPJ 609279 608393 Microcephaly 6, primary, autosomal recessive 64,59 95,46% 90,93% CEP135 611423 614673 Microcephaly 8, primary, autosomal recessive 39,29 65,62% 86,40% CEP152 613529 614852 Microcephaly 9, primary, autosomal recessive 62,26 91,53% 93,81% CEP290 610142 610188 Joubert syndrome 5 46,06 75,87% 85,34% CEP41 610523 614464 Joubert syndrome 15 71,46 95,60% 96,20% CEP57 607951 614114 Mosaic variegated aneuploidy syndrome 2 53,50 85,01% 91,28% CEP63 614724 614728 Seckel syndrome 6 42,03 68,57% 77,88% CHAMP1 616327 616579 Mental retardation, autosomal dominant 40 169,99 98,62% 99,88% CHAT 118490 254210 Myasthenic syndrome, congenital, 6, presynaptic 92,67 89,34% 80,04% CHD2 602119 615369 Epileptic encephalopathy, childhood-onset 68,91 91,55% 93,81% CHD4 603277 617159 Sifrim-Hitz-Weiss syndrome 89,53 99,71% 90,92% CHD7 608892 214800 CHARGE syndrome 84,78 94,91% 93,81% CHD8 610528 615032 Autism, susceptibility to, 18 89,90 97,77% 92,14% CHKB 612395 602541 Muscular dystrophy, congenital, megaconial type 106,88 99,13% 97,66% CHMP1A 164010 614961 Pontocerebellar hypoplasia, type 8 116,44 99,95% 99,25% CHRNA4 118504 600513 Epilepsy, nocturnal frontal lobe, 1 146,84 94,91% 54,78% CHRND 100720 616322 Myasthenic syndrome, congenital, 3B, fast-channel 123,83 97,91% 82,86% CISD2 611507 604928 Wolfram syndrome 2 75,30 79,63% 59,15% CLCN4 302910 300114 Mental retardation, X-linked 49/15 95,34 97,29% 93,21% CLN3 607042 204200 Ceroid lipofuscinosis, neuronal, 3 112,49 99,42% 89,41% CLN5 608102 256731 Ceroid lipofuscinosis, neuronal, 5 79,42 97,94% 97,46% CLN6 606725 601780 Ceroid lipofuscinosis, neuronal, 6 99,44 90,91% 86,22% CLN8 607837 600143 Ceroid lipofuscinosis, neuronal, 8 134,31 99,99% 91,17% CLP1 608757 615803 Pontocerebellar hypoplasia, type 10 108,79 99,88% 98,95% 3-methylglutaconic aciduria, type VII, with cataracts, neurologic CLPB 616254 616271 109,91 96,55% 95,32% involvement and neutropenia CNKSR2 300724 - Houge et al., Mol Syndromol 2012 : ID 58,44 75,11% 90,60% CNTNAP2 604569 610042 Pitt-Hopkins like syndrome 1 70,68 96,53% 88,22% COASY 609855 615643 Neurodegeneration with brain iron accumulation 6 173,13 100,00% 99,61% COG1 606973 611209 Congenital disorder of glycosylation, type IIg 94,76 98,59% 92,65% COG5 606821 613612 Congenital disorder of glycosylation, type IIi 53,28 87,96% 94,72% COG6 606977 614576 Congenital disorder of glycosylation, type IIl 44,36 78,62% 91,08% COG7 606978 608779 Congenital disorder of glycosylation, type IIe 77,18 96,01% 90,50% COG8 606979 611182 Congenital disorder of glycosylation, type IIh 115,76 97,25% 94,69% COL4A1 120130 175780 Porencephaly 1 86,07 97,07% 87,31% COL4A2 120090 614483 Porencephaly 2 108,82 99,72% 82,73% COL4A3BP 604677 616351 Mental retardation, autosomal dominant 34 65,43 88,50% 92,22% COLEC10 607620 616351 Mental retardation, autosomal dominant 34 76,33 96,00% 97,51% COLEC11 612502 265050 3MC syndrome 2 150,25 99,69% 67,61% COQ2 609825 607426 Coenzyme Q10 deficiency, primary, 1 61,12 87,32% 95,76% COQ4 612898 616276 Coenzyme Q10 deficiency, primary, 7 112,80 99,15% 87,22% COQ6 614647 614650 Coenzyme Q10 deficiency, primary, 6 107,02 92,56% 93,44% COQ7 601683 616733 Coenzyme Q10 deficiency, primary, 8 81,11 99,74% 86,74% COQ8A 606980 612016 Coenzyme Q10 deficiency, primary, 4 141,83 99,82% 88,91% COQ9 612837 614654 Coenzyme Q10 deficiency, primary, 5 69,75 91,45% 88,17% COX10 602125 256000 Leigh syndrome due to mitochondrial COX4 deficiency 160,58 97,78% 79,58% CPLANE1 614571 614615 Joubert syndrome 17 56,18 87,44% 91,45% Mental retardation, autosomal recessive 34, with variant CRADD 603454 614499 102,31 95,44% 91,61% lissencephaly CRBN 609262 607417 Mental retardation, autosomal recessive 2 54,47 87,92% 90,35% CREBBP 600140 180849 Rubinstein-Taybi syndrome 1 108,01 96,19% 92,11% CSNK2A1 115440 617062 Okur-Chung neurodevelopmental syndrome 60,34 91,40% 53,64% CSPP1 611654 615636 Joubert syndrome 21 52,32 83,52% 90,94% CTC1 613129 612199 Cerebroretinal microangiopathy with calcifications and cysts 102,07 98,79% 91,74% CTCF 604167 615502 Mental retardation, autosomal dominant 21 82,60 95,93% 90,79% CTNNB1 116806 615075 Mental retardation, autosomal dominant 19 65,61 95,96% 97,70% CTSA 613111 256540 Galactosialidosis 125,47 99,91% 91,13% CTSD 116840 610127 Ceroid lipofuscinosis, neuronal, 10 161,48 98,42% 95,77% CUL4B 300304 300354 Mental retardation, X-linked, syndromic 15 (Cabezas type) 50,28 75,53% 91,94% CYB5R3 613213 250800 Methemoglobinemia, type I 124,56 96,26% 91,27% CYP27A1 606530 213700 Cerebrotendinous xanthomatosis 148,54 98,32% 88,80% D2HGDH 609186 600721 D-2-hydroxyglutaric aciduria 124,70 98,23% 90,26% Muscular dystrophy-dystroglycanopathy (congenital with brain DAG1 128239 616538 201,93 100,00% 99,23% and eye anomalies), type A, 9 Leukoencephalopathy with brain stem and spinal cord DARS2 610956 611105 58,37 88,73% 89,52% involvement and lactate elevation DCAF17 612515 241080 Woodhouse-Sakati syndrome 50,24 87,57% 93,30% DCC 120470 157600 Mirror movements 1 and/or agenesis of the corpus callosum 73,54 97,72% 87,30% DCPS 610534 616459 Al-Raqad syndrome 119,50 99,85% 83,79% DCX 300121 300067 Lissencephaly, X-linked 75,74 92,59% 93,18% DDB2 600811 278740 Xeroderma pigmentosum, group E, DDB-negative subtype 101,74 96,35% 86,25% DDHD2 615003 615033 Spastic paraplegia 54, autosomal recessive 55,23 86,72% 87,76% DDX11 601150 613398 Warsaw breakage syndrome 275,55 94,20% 0,00% DDX3X 300160 300958 Mental retardation, X-linked 102 53,18 79,31% 81,22% DEAF1 602635 615828 Mental retardation, autosomal dominant 24 90,44 87,91% 86,26% DHCR24 606418 602398 Desmosterolosis 121,75 99,51% 87,63% DHCR7 602858 270400 Smith-Lemli-Opitz syndrome 133,35 100,00% 94,34% DHFR 126060 613839 Megaloblastic anemia due to dihydrofolate reductase deficiency 47,39 64,36% 20,08% Lessel et al., AJHG 2017 : global developmental delay (GDD), DHX30 616423 - intellectual disability (ID), severe speech impairment and gait 162,20 99,87% 95,50% abnormalities. DIAPH1 602121 616632 Seizures, cortical blindness, microcephaly syndrome 77,30 96,08% 89,60% DKC1 300126 305000 Dyskeratosis congenita, X-linked 64,30 86,23% 90,76% DLD 238331 246900 Dihydrolipoamide dehydrogenase deficiency 57,18 92,03% 92,30% DLG3 300189 300850 Mental retardation, X-linked 90 67,35 85,05% 92,02% DLL4 605185 616589 Adams-Oliver syndrome 6 176,03 98,88% 89,52% DNAJC19 608977 610198 3-methylglutaconic aciduria, type V 44,58 71,87% 50,48% DNM1 602377 616346 Epileptic encephalopathy, early infantile, 31 146,82 97,21% 67,85% DNMT3A 602769 615879 Tatton-Brown-Rahman syndrome 117,38 97,33% 90,29% Immunodeficiency-centromeric instability-facial anomalies DNMT3B 602900 242860 121,83 98,04% 95,47% syndrome 1 DOCK6 614194 614219 Adams-Oliver syndrome 2 115,09 97,41% 81,64% DOCK8 611432 243700 Hyper-IgE recurrent infection syndrome, autosomal recessive 66,80 90,83% 89,64% DPAGT1 191350 608093 Congenital disorder of glycosylation, type Ij 90,15 99,70% 94,05% Developmental delay with short stature, dysmorphic features, DPH1 603527 616901 143,25 100,00% 84,53% and sparse hair DPM1 603503 608799 Congenital disorder of glycosylation, type Ie 68,85 76,54% 89,47% DPP6 126141 616311 Mental retardation, autosomal dominant 33 87,79 90,99% 78,33% DSCAM 602523 - Wang et al., Nat Commun 2016 : Autisme 89,07 97,62% 81,98% DYNC1H1 600112 614563 Mental retardation, autosomal dominant 13 92,06 96,94% 93,57% DYRK1A 600855 614104 Mental retardation, autosomal dominant 7 64,52 88,95% 89,23% EARS2 612799 614924 Combined oxidative phosphorylation deficiency 12 90,31 97,18% 91,29% EBF3 607407 617330 Hypotonia, ataxia, and delayed development syndrome 113,79 99,74% 88,07% EBP 300205 300960 MEND syndrome 69,14 88,78% 79,75% ECHS1 602292 616277 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency 75,50 99,35% 82,95% EDC3 609842 616460 Mental retardation, autosomal recessive 50 100,40 99,84% 94,75% EEF1A2 602959 616393 Mental retardation, autosomal dominant 38 161,97 98,62% 29,41% EFNB1 300035 304110 Craniofrontonasal dysplasia 102,99 99,67% 93,90% EFTUD2 603892 610536 Mandibulofacial dysostosis, Guion-Almeida type 82,55 98,27% 93,14% EHMT1 607001 610253 Kleefstra syndrome 114,84 97,54% 72,71% EIF2AK3 604032 226980 Wolcott-Rallison syndrome 56,27 85,05% 87,82% EIF2S3 300161 300987 Mental retardation, X-linked, syndromic, Borck type 43,35 65,02% 59,37% ELOVL4 605512 614457 Ichthyosis, spastic quadriplegia, and mental retardation 63,37 94,98% 93,26% ELP2 616054 617270 Mental retardation, autosomal recessive 58 60,25 88,02% 90,78% EML1 602033 600348 Band heterotopia 69,16 92,63% 95,68% EMX2 600035 269160 Schizencephaly 173,03 99,98% 92,41% ENTPD1 601752 615683 Spastic paraplegia 64, autosomal recessive 69,46 88,48% 86,44% EOGT 614789 615297 Adams-Oliver syndrome 4 52,77 86,97% 95,21% EP300 602700 613684 Rubinstein-Taybi syndrome 2 115,10 94,86% 93,17% EPB41L1 602879 614257 Mental retardation, autosomal dominant 11 105,63 91,05% 89,39% EPG5 615068 242840 Vici syndrome 64,34 90,61% 90,11% ERCC2 126340 610756 Cerebrooculofacioskeletal syndrome 2 133,09 99,73% 91,39% ERCC3 133510 610651 Xeroderma pigmentosum, group B 82,58 96,88% 89,71% ERCC4 133520 278760 Xeroderma pigmentosum, type F/Cockayne syndrome 71,86 90,01% 92,30% ERCC5 133530 278780 Xeroderma pigmentosum, group G/Cockayne syndrome 67,69 94,77% 92,51% ERCC6 609413 214150 Cerebrooculofacioskeletal syndrome 1 85,69 96,72% 70,35% ERCC8 609412 216400 Cockayne syndrome, type A 47,87 65,62% 94,92% ERLIN2 611605 611225 Spastic paraplegia 18, autosomal recessive 81,55 98,72% 96,76% ESCO2 609353 268300 Roberts syndrome 56,01 93,64% 98,61% ETHE1 608451 602473 Ethylmalonic encephalopathy 104,11 99,03% 63,89% EXOSC3 606489 614678 Pontocerebellar hypoplasia, type 1B 88,33 79,35% 64,04% EZH2 601573 277590 Weaver syndrome 64,39 90,42% 88,85% EZR 123900 - Riecken et al., Hum Mut 2015 : ID 115,62 98,68% 69,41% FAM126A 610531 610532 Leukodystrophy, hypomyelinating, 5 56,37 90,58% 92,11% FARS2 611592 614946 Combined oxidative phosphorylation deficiency 14 122,01 98,62% 99,02% FAT4 612411 615546 Van Maldergem syndrome 2 100,82 97,93% 97,34% Mitochondrial DNA depletion syndrome 13 FBXL4 605654 615471 72,70 97,20% 96,46% (encephalomyopathic type) FBXO31 609102 615979 Mental retardation, autosomal recessive 45 100,04 92,98% 93,00% FGD1 300546 305400 Mental retardation, X-linked syndromic 16 95,63 94,43% 91,06% FGFR1 136350 147950 Hypogonadotropic hypogonadism 2 with or without anosmia 108,61 92,45% 80,75% FGFR2 176943 101400 Saethre-Chotzen syndrome 82,68 96,74% 95,07% FGFR3 134934 612247 Crouzon syndrome with acanthosis nigricans 124,72 99,72% 95,49% FH 136850 606812 Fumarase deficiency 64,34 82,24% 78,65% Muscular dystrophy-dystroglycanopathy (congenital with or FKRP 606596 606612 155,69 100,00% 96,04% without mental retardation), type B, 5 Muscular dystrophy-dystroglycanopathy (congenital without FKTN 607440 613152 62,12 89,96% 88,99% mental retardation), type B, 4 FLNA 300017 300049 Heterotopia, periventricular 146,65 99,86% 94,24% FMN2 606373 616193 Mental retardation, autosomal recessive 47 97,23 84,92% 62,91% FMR1 309550 300623 Fragile X tremor/ataxia syndrome 46,81 71,61% 94,60% FOLR1 136430 613068 Neurodegeneration due to cerebral folate transport deficiency 148,40 100,00% 74,61% FOXG1 164874 613454 Rett syndrome, congenital variant 135,72 94,91% 84,45% Mental retardation with language impairment and with or FOXP1 605515 613670 81,10 97,67% 89,37% without autistic features FOXP2 605317 602081 Speech-language disorder-1 63,46 90,50% 89,51% FOXRED1 613622 256000 Leigh syndrome due to mitochondrial complex I deficiency 98,22 99,61% 54,04% FRAS1 607830 219000 Fraser syndrome 1 79,25 95,82% 87,73% FREM2 608945 617666 Fraser syndrome 2 104,75 98,39% 95,35% FRMPD4 300838 300983 Mental retardation, X-linked 104 87,60 90,99% 92,73% FTCD 606806 229100 Glutamate formiminotransferase deficiency 96,78 92,27% 69,94% FTL 134790 606159 Neurodegeneration with brain iron accumulation 3 144,17 99,84% 49,69% FTO 610966 612938 Growth retardation, developmental delay, facial dysmorphism 69,33 86,00% 71,37% FTSJ1 300499 309549 Mental retardation, X-linked 9/44 121,30 96,54% 98,00% FUCA1 612280 230000 Fucosidosis 83,68 97,71% 89,97% Niturad et al., Brain 2017 : range of epileptic seizure types, a GABRA3 305660 - varying degree of intellectual disability and developmental 59,00 76,14% 90,24% delay, sometimes with dysmorphic features or nystagmus. GABRB3 137192 617113 Epileptic encephalopathy, early infantile, 43 83,55 90,14% 87,48% GABRG2 137164 611277 Epilepsy, generalized, with febrile seizures plus, type 3 62,97 87,87% 85,67% GALT 606999 230400 Galactosemia 142,80 100,00% 96,55% GAMT 601240 612736 Cerebral creatine deficiency syndrome 2 98,79 91,57% 90,97% GAN 605379 256850 Giant axonal neuropathy-1 70,06 95,16% 86,25% GATAD2B 614998 615074 Mental retardation, autosomal dominant 18 73,78 96,87% 94,81% GATM 602360 612718 Cerebral creatine deficiency syndrome 3 58,56 93,51% 89,63% GBE1 607839 232500 Glycogen storage disease IV 68,82 88,29% 96,21% Dystonia, DOPA-responsive, with or without GCH1 600225 128230 59,98 91,65% 95,42% hyperphenylalaninemia GCSH 238330 605899 Glycine encephalopathy 33,38 54,24% 43,66% GDI1 300104 300849 Mental retardation, X-linked 41 133,91 99,46% 94,61% GFAP 137780 203450 Alexander disease 93,52 99,34% 87,95% GJC2 608803 608804 Leukodystrophy, hypomyelinating, 2 73,58 73,52% 92,06% GLB1 611458 230500 GM1-gangliosidosis, type I 75,20 97,28% 85,91% GLDC 238300 605899 Glycine encephalopathy 56,33 79,67% 56,84% GLI2 165230 610829 Holoprosencephaly 9 153,49 99,27% 90,69% GLI3 165240 175700 Greig cephalopolysyndactyly syndrome 137,34 97,94% 94,61% GLUL 138290 610015 Glutamine deficiency, congenital 105,46 95,88% 71,32% GLYCTK 610516 220120 D-glyceric aciduria 170,95 99,09% 92,52% GM2A 613109 272750 GM2-gangliosidosis, AB variant 110,14 99,36% 83,70% GMPPA 615495 615510 Alacrima, achalasia, and mental retardation syndrome 130,38 100,00% 90,24% Muscular dystrophy-dystroglycanopathy (congenital with mental GMPPB 615320 615351 225,25 100,00% 97,77% retardation), type B, 14 GNAI3 139370 602483 Auriculocondylar syndrome 1 55,43 86,59% 92,71% GNAO1 139311 615473 Epileptic encephalopathy, early infantile, 17 98,98 97,95% 81,21% GNAS 139320 103580 Pseudohypoparathyroidism Ia 176,86 95,88% 89,14% GNPAT 602744 222765 Rhizomelic chondrodysplasia punctata, type 2 65,04 91,44% 89,92% GNPTAB 607840 252500 Mucolipidosis II alpha/beta 67,97 94,43% 90,94% GNPTG 607838 252605 Mucolipidosis III gamma 185,60 94,85% 97,47% GNS 607664 252940 Mucopolysaccharidosis type IIID 58,69 89,95% 88,69% GPC3 300037 312870 Simpson-Golabi-Behmel syndrome, type 1 60,50 84,44% 88,86% GPHN 603930 615501 Molybdenum cofactor deficiency C 65,23 94,95% 95,50% GPSM2 609245 604213 Chudley-McCullough syndrome 60,30 86,28% 89,82% GPT2 138210 616281 Mental retardation, autosomal recessive 49 111,51 97,30% 92,50% GRIA3 305915 300699 Mental retardation, X-linked 94 57,03 82,25% 87,55% GRID2 602368 616204 Spinocerebellar ataxia, autosomal recessive 18 71,08 90,27% 91,33% GRIK2 138244 611092 Mental retardation, autosomal recessive, 6 72,16 92,68% 89,63% GRIN1 138249 614254 Mental retardation, autosomal dominant 8 128,93 98,31% 90,24% Epilepsy, focal, with speech disorder and with or without mental GRIN2A 138253 245570 118,70 99,33% 95,54% retardation GRIN2B 138252 613970 Mental retardation, autosomal dominant 6 136,39 97,08% 95,78% GRIP1 604597 617667 Fraser syndrome 3 71,87 97,64% 93,24% GRM1 604473 617691 Spinocerebellar ataxia 44 129,49 97,55% 95,41% GSS 601002 266130 Glutathione synthetase deficiency 86,69 99,61% 91,77% GTF2E2 189964 616943 Trichothiodystrophy 6, nonphotosensitive 49,30 78,55% 88,13% GTF2H5 608780 616395 Trichothiodystrophy 3, photosensitive 43,96 74,88% 60,66% GTPBP3 608536 616198 Combined oxidative phosphorylation deficiency 23 174,67 99,99% 92,81% GUSB 611499 253220 Mucopolysaccharidosis VII 106,98 97,55% 60,03% Spastic paraplegia and psychomotor retardation with or without HACE1 610876 616756 55,93 86,34% 92,59% seizures Spastic paraplegia and psychomotor retardation with or without HCFC1 300019 616756 109,75 94,60% 91,82% seizures HCN1 602780 615871 Epileptic encephalopathy, early infantile, 24 103,16 95,36% 94,86% HDAC4 605314 - Fisch et al., AJMG 2016 : ID 116,81 99,61% 90,41% HDAC8 300269 300882 Cornelia de Lange syndrome 5 55,37 85,29% 93,02% Neurodevelopmental disorder with hypotonia, seizures, and HECW2 617245 617268 79,51 92,18% 93,66% absent language Megalencephalic leukoencephalopathy with subcortical cysts HEPACAM 611642 613926 97,85 85,42% 89,43% 2B, remitting, with or without mental retardation HERC1 605109 617011 Macrocephaly, dysmorphic facies, and psychomotor retardation 70,04 95,24% 94,87% HERC2 605837 615516 Mental retardation, autosomal recessive 38 94,63 84,31% 35,03% HESX1 601802 182230 Growth hormone deficiency with pituitary anomalies 44,76 84,38% 81,94% HEXA 606869 272800 Tay-Sachs disease 92,96 99,26% 67,74% HEXB 606873 268800 Sandhoff disease, infantile, juvenile, and adult forms 88,12 94,73% 88,71% HGSNAT 610453 252930 Mucopolysaccharidosis type IIIC (Sanfilippo C) 77,78 92,70% 95,84% HIVEP2 143054 616977 Mental retardation, autosomal dominant 43 120,79 99,19% 97,71% HLCS 609018 253270 Holocarboxylase synthetase deficiency 101,69 96,27% 90,83% HNMT 605238 616739 Mental retardation, autosomal recessive 51 56,67 90,55% 92,99% HNRNPH2 300610 300986 Mental retardation, X-linked, syndromic, Bain type 107,31 99,92% 78,01% HNRNPK 600712 616580 Au-Kline syndrome 52,49 71,20% 50,11% HNRNPU 602869 617391 Epileptic encephalopathy, early infantile, 54 88,72 96,23% 90,49% HOXA1 142955 601536 Athabaskan brainstem dysgenesis syndrome 162,33 99,97% 84,30% HPRT1 308000 300322 Lesch-Nyhan syndrome 41,57 64,24% 92,30% HRAS 190020 218040 Costello syndrome 163,67 99,79% 97,22% HSD17B10 300256 300438 HSD10 mitochondrial disease 104,77 98,55% 99,27% HSPG2 142461 224410 Dyssegmental dysplasia, Silverman-Handmaker type 130,47 98,93% 87,74% HUWE1 300697 300706 Mental retardation, X-linked syndromic, Turner type 65,41 84,79% 91,11% Growth retardation, intellectual developmental disorder, IARS 600709 617093 53,34 90,07% 92,72% hypotonia, and hepatopathy Cataracts, growth hormone deficiency, sensory neuropathy, IARS2 612801 616007 70,28 94,38% 91,61% sensorineural hearing loss, and skeletal dysplasia IDS 300823 309900 Mucopolysaccharidosis II 79,63 92,49% 90,99% IDUA 252800 607015 Mucopolysaccharidosis Ih/s 121,69 89,45% 89,21% IER3IP1 609382 614231 Microcephaly, epilepsy, and diabetes syndrome 78,73 82,71% 98,50% IFIH1 606951 615846 Aicardi-Goutieres syndrome 7 63,28 87,39% 86,25% IFT172 607386 615630 Short-rib thoracic dysplasia 10 with or without polydactyly 73,31 96,53% 93,92% IFT27 615870 615996 Bardet-Biedl syndrome 19 96,46 99,98% 94,45% IFT57 606621 - Thevenon et al., Clin Genet 2016 : Oro-facial-digital syndrome 49,61 77,70% 85,98% Growth retardation with deafness and mental retardation due to IGF1 147440 608747 78,03 98,82% 98,56% IGF1 deficiency IL1RAPL1 300206 300143 Mental retardation, X-linked 21/34 56,20 77,06% 89,75% INPP5E 613037 213300 Joubert syndrome 1 117,06 97,50% 74,63% INTU 610621 - Bruel et al., JMG 2017 : oro-facial-digital syndrome 60,45 89,72% 90,39% IQSEC2 300522 309530 Mental retardation, X-linked 1/78 83,65 87,55% 84,59% IRX5 606195 611174 Hamamy syndrome 101,49 99,35% 86,72% Muscular dystrophy-dystroglycanopathy (congenital with brain ISPD 614631 614643 64,14 88,61% 95,75% and eye anomalies), type A, 7 ITGA7 600536 613204 Muscular dystrophy, congenital, due to ITGA7 deficiency 125,67 97,10% 91,61% ITPR1 147265 117360 Spinocerebellar ataxia 29, congenital nonprogressive 77,11 93,92% 90,59% Hemorrhagic destruction of the brain, subependymal JAM3 606871 613730 82,58 97,29% 97,97% calcification, and cataracts KANSL1 612452 610443 Koolen-De Vries syndrome 97,40 97,34% 0,00% KAT6A 601408 616268 Mental retardation, autosomal dominant 32 97,18 97,05% 93,93% KAT6B 605880 606170 Genitopatellar syndrome 104,63 94,78% 92,67% KCNC1 176258 616187 Epilepsy, progressive myoclonic 7 146,94 99,61% 86,44% KCNC3 176264 605259 Spinocerebellar ataxia 13 110,38 71,82% 82,15% KCNH1 603305 611816 Temple-Baraitser syndrome 112,66 98,63% 92,46% KCNJ10 602208 612780 SESAME syndrome 155,92 98,29% 93,24% Diabetes, permanent neonatal, with or without neurologic KCNJ11 600937 606176 201,06 100,00% 99,42% features KCNK9 605874 612292 Birk-Barel mental retardation dysmorphism syndrome 141,30 100,00% 94,92% Paroxysmal nonkinesigenic dyskinesia, 3, with or without KCNMA1 600150 609446 88,84 94,70% 88,46% generalized epilepsy KCNQ2 602235 613720 Epileptic encephalopathy, early infantile, 7 136,93 99,61% 76,99% KCNQ5 607357 617601 Mental retardation, autosomal dominant 46 84,38 92,08% 94,28% KCNT1 608167 614959 Epileptic encephalopathy, early infantile, 14 115,61 98,65% 78,51% Epilepsy, progressive myoclonic 3, with or without intracellular KCTD7 611725 611726 121,96 99,84% 90,11% inclusions Cleft palate, psychomotor retardation, and distinctive facial KDM1A 609132 616728 65,55 94,15% 93,51% features KDM5C 314690 300534 Mental retardation, X-linked, syndromic, Claes-Jensen type 108,19 94,11% 87,56% KDM6A 300128 300867 Kabuki syndrome 2 58,42 78,60% 84,49% KIAA0586 610178 616490 Joubert syndrome 23 50,72 80,81% 86,14% KIAA0753 617112 617127 Orofaciodigital syndrome XV 61,43 93,30% 92,78% Microcephaly with or without chorioretinopathy, lymphedema, KIF11 148760 152950 45,94 80,54% 84,68% or mental retardation KIF1A 601255 614255 Mental retardation, autosomal dominant 9 119,83 99,14% 88,72% KIF1BP 609367 609460 Goldberg-Shprintzen megacolon syndrome 86,55 94,83% 93,79% KIF4A 300521 300923 Mental retardation, X-linked 100 52,18 74,04% 62,37% KIF5A 602821 617235 Myoclonus, intractable, neonatal 93,75 97,87% 90,06% KIF5C 604593 615282 Cortical dysplasia, complex, with other brain malformations 2 67,88 92,45% 90,40% KIF7 611254 200990 Joubert syndrome 12 102,44 91,02% 86,11% KIRREL3 607761 612581 Mental retardation, autosomal dominant 4 131,38 97,93% 85,45% KLC2 611729 609541 Spastic paraplegia, optic atrophy, and neuropathy 136,09 98,99% 91,09% KMT2A 159555 605130 Wiedemann-Steiner syndrome 82,64 98,56% 96,50% KMT2C 606833 617768 Kleefstra syndrome 2 79,19 88,91% 74,40% KMT2D 602113 147920 Kabuki syndrome 1 151,59 99,57% 94,82% KMT2E 608444 - Dong et al., Cell Rep 2014 : trouble du spectre autistique 77,29 89,78% 92,29% Stessman et al., Nat Genet 2017 : autisme et retard KMT5B 610881 - 82,39 91,50% 91,19% développemental KNL1 609173 604321 Microcephaly 4, primary, autosomal recessive 57,24 88,51% 94,42% KPTN 615620 615637 Mental retardation, autosomal recessive 41 147,38 99,94% 89,68% KRAS 190070 609942 Noonan syndrome 3 37,71 69,93% 77,03% L1CAM 308840 303350 CRASH syndrome 131,10 97,73% 87,85% L2HGDH 609584 236792 L-2-hydroxyglutaric aciduria 55,71 87,72% 86,06% LAMA1 150320 615960 Poretti-Boltshauser syndrome 76,72 96,67% 90,31% Muscular dystrophy, congenital, due to partial LAMA2 LAMA2 156225 607855 66,03 93,36% 91,04% deficiency LAMB1 150240 615191 Lissencephaly 5 82,28 95,02% 88,29% LAMC3 604349 614115 Cortical malformations, occipital 131,76 97,22% 80,53% LAMP2 309060 300257 Danon disease 51,06 72,77% 91,34% Muscular dystrophy-dystroglycanopathy (congenital with mental LARGE1 603590 608840 106,87 98,37% 80,76% retardation), type B, 6 LARP7 612026 615071 Alazami syndrome 35,53 56,84% 80,83% LAS1L 300964 309585 Wilson-Turner syndrome 74,88 93,60% 93,34% LIAS 607031 614462 Hyperglycinemia, lactic acidosis, and seizures 57,13 89,79% 89,06% LIG4 601837 606593 LIG4 syndrome 78,59 95,14% 94,97% LINS1 610350 614340 Mental retardation, autosomal recessive 27 57,67 94,00% 96,52% LIPT1 610284 616299 Lipoyltransferase 1 deficiency 63,58 98,78% 98,78% LMBRD1 612625 277380 Methylmalonic aciduria and homocystinuria, cblF type 46,57 67,29% 92,32% LMNA 150330 616516 Emery-Dreifuss muscular dystrophy 3, AR 110,61 90,60% 93,29% LRP2 600073 222448 Donnai-Barrow syndrome 69,51 95,00% 91,54% LZTFL1 606568 615994 Bardet-Biedl syndrome 17 68,75 93,39% 93,20% LZTR1 600574 616564 Noonan syndrome 10 128,12 99,79% 87,11% MAGEL2 605283 615547 Schaaf-Yang syndrome 145,16 93,97% 89,81% MAN1B1 604346 614202 Mental retardation, autosomal recessive 15 130,06 99,22% 83,77% MAN2B1 609458 248500 Mannosidosis, alpha-, types I and II 125,20 98,94% 89,75% MANBA 609489 248510 Mannosidosis, beta 60,43 85,32% 87,07% MAOA 309850 300615 Brunner syndrome 63,68 88,12% 97,87% MAP2K1 176872 615279 Cardiofaciocutaneous syndrome 3 95,13 98,82% 77,32% MAP2K2 601263 615280 Cardiofaciocutaneous syndrome 4 130,01 94,99% 69,56% MASP1 600521 257920 3MC syndrome 1 107,55 98,88% 94,35% Hypermethioninemia, persistent, autosomal dominant, due to MAT1A 610550 250850 109,22 96,83% 94,44% methionine adenosyltransferase I/III deficiency MBD5 611472 156200 Mental retardation, autosomal dominant 1 83,90 98,08% 97,38% MBOAT7 606048 617188 Mental retardation, autosomal recessive 57 105,65 96,17% 57,73% MBTPS2 300294 308205 IFAP syndrome with or without BRESHECK syndrome 60,20 84,61% 84,53% MCCC1 609010 210200 3-Methylcrotonyl-CoA carboxylase 1 deficiency 69,28 91,29% 89,82% MCOLN1 605248 252650 Mucolipidosis IV 122,90 99,52% 83,98% MCPH1 607117 251200 Microcephaly 1, primary, autosomal recessive 64,75 80,49% 87,38% MECP2 300005 312750 Rett syndrome 161,23 97,99% 99,33% MED12 300188 305450 Opitz-Kaveggia syndrome 88,77 94,10% 88,40% Mental retardation and distinctive facial features with or without MED13L 608771 616789 76,13 96,62% 93,09% cardiac defects Microcephaly, postnatal progressive, with seizures and brain MED17 603810 613668 62,43 87,71% 83,77% atrophy MED23 605042 614249 Mental retardation, autosomal recessive 18 62,55 93,16% 92,82% Mental retardation, stereotypic movements, epilepsy, and/or MEF2C 600662 613443 80,45 90,10% 89,61% cerebral malformations MEIS2 601740 600987 Cleft palate, cardiac defects, and mental retardation 88,23 99,88% 93,38% METTL23 615262 615942 Mental retardation, autosomal recessive 44 74,64 95,61% 97,97% MFSD8 611124 610951 Ceroid lipofuscinosis, neuronal, 7 52,20 87,55% 93,34% MID1 300552 300000 Opitz GBBB syndrome, type I 54,60 48,64% 50,23% MKKS 604896 605231 Bardet-Biedl syndrome 6 68,85 96,15% 91,67% MKS1 609883 615990 Bardet-Biedl syndrome 13 88,80 94,31% 86,77% MLYCD 606761 248360 Malonyl-CoA decarboxylase deficiency 89,65 95,29% 96,05% MMACHC 609831 277400 Methylmalonic aciduria and homocystinuria, cblC type 156,35 100,00% 93,44% MOCS1 603707 252150 Molybdenum cofactor deficiency A 108,04 96,99% 35,74% MOCS2 603708 252160 Molybdenum cofactor deficiency B 61,17 93,87% 96,53% MOGS 601336 606056 Congenital disorder of glycosylation, type IIb 143,30 99,83% 96,88% MPDU1 604041 609180 Congenital disorder of glycosylation, type If 112,64 99,82% 91,81% MPDZ 603785 615219 Hydrocephalus, nonsyndromic, autosomal recessive 2 65,61 92,27% 91,99% MPLKIP 609188 234050 Trichothiodystrophy 4, nonphotosensitive 75,99 99,51% 97,99% MTFMT 611766 614947 Combined oxidative phosphorylation deficiency 15 50,29 91,52% 92,90% MTHFR 607093 236250 Homocystinuria due to MTHFR deficiency 116,08 99,89% 89,67% MTM1 300415 310400 Myotubular myopathy, X-linked 48,57 69,46% 94,10% MTOR 601231 616638 Smith-Kingsmore syndrome 85,13 97,34% 89,90% Homocystinuria-megaloblastic anemia, cblG complementation MTR 156570 250940 72,97 97,79% 92,48% type MTRR 602568 236270 Homocystinuria-megaloblastic anemia, cbl E type 65,46 96,90% 91,96% MVK 251170 610377 Mevalonic aciduria 111,03 99,98% 90,48% MYCN 164840 164280 Feingold syndrome 1 139,55 99,72% 90,36% MYO5A 160777 214450 Griscelli syndrome, type 1 66,94 93,92% 93,05% MYT1L 613084 616521 Mental retardation, autosomal dominant 39 101,33 97,14% 85,77% NAA10 300013 300855 Ogden syndrome 100,46 95,20% 94,10% Neurodevelopmental disorder with epilepsy, cataracts, feeding NACC1 610672 617393 155,16 99,98% 92,34% difficulties, and delayed brain myelination NAGA 104170 609241 Schindler disease, type I 118,55 99,96% 82,53% NAGLU 609701 252920 Mucopolysaccharidosis type IIIB (Sanfilippo B) 121,01 92,09% 88,71% Congenital contractures of the limbs and face, hypotonia, and NALCN 611549 616266 67,71 94,22% 90,75% developmental delay NARS2 612803 616239 Combined oxidative phosphorylation deficiency 24 56,94 91,95% 91,93% NBN 602667 251260 Nijmegen breakage syndrome 53,39 86,51% 91,71% NDE1 609449 614019 Lissencephaly 4 (with microcephaly) 86,84 97,82% 83,44% NDP 300658 310600 Norrie disease 84,43 97,54% 96,94% NDST1 600853 616116 Mental retardation, autosomal recessive 46 155,41 99,88% 91,12% NDUFA1 300078 252010 Mitochondrial complex I deficiency 116,80 90,98% 99,66% NDUFA11 612638 252010 Mitochondrial complex I deficiency 123,29 99,46% 85,53% NDUFA12 614530 256000 Leigh syndrome due to mitochondrial complex 1 deficiency 82,47 97,66% 95,82% NDUFA2 602137 256000 Leigh syndrome due to mitochondrial complex I deficiency 107,89 100,00% 94,66% NDUFA9 603834 256000 Leigh syndrome due to mitochondrial complex I deficiency 75,82 94,11% 85,78% NDUFAF6 612392 256000 Leigh syndrome due to mitochondrial complex I deficiency 52,23 90,10% 97,74% NDUFS2 602985 252010 Mitochondrial complex I deficiency 95,20 99,25% 94,84% NDUFS3 603846 256000 Leigh syndrome due to mitochondrial complex I deficiency 112,71 97,97% 86,88% NDUFS4 602694 252010 Mitochondrial complex I deficiency 67,81 92,80% 92,52% NDUFS7 601825 256000 Leigh syndrome 120,99 99,67% 88,65% NEDD4L 606384 617201 Periventricular nodular heterotopia 7 77,75 95,90% 95,14% NEXMIF 300524 300912 Mental retardation, X-linked 98 67,10 94,44% 99,89% NFIA 600727 613735 Brain malformations and urinary tract defects 79,92 98,65% 89,72% NFIX 164005 614753 Sotos syndrome 2 156,47 96,61% 84,43% NGF 162030 608654 Neuropathy, hereditary sensory and autonomic, type V 149,40 99,89% 93,63% Severe combined immunodeficiency with microcephaly, growth NHEJ1 611290 611291 61,20 96,84% 91,24% retardation, and sensitivity to ionizing radiation NHP2 606470 613987 Dyskeratosis congenita, autosomal recessive 2 100,15 95,36% 35,71% NHS 300457 302350 Nance-Horan syndrome 72,01 88,16% 98,34% NIN 608684 614851 Seckel syndrome 7 78,35 94,80% 91,10% NIPBL 608667 122470 Cornelia de Lange syndrome 1 48,66 84,84% 93,86% Choreoathetosis, hypothyroidism, and neonatal respiratory NKX2-1 600635 610978 95,66 97,45% 87,60% distress NONO 300084 300967 Mental retardation, X-linked, syndromic 34 63,96 83,42% 61,03% NOTCH1 190198 616028 Adams-Oliver syndrome 5 141,27 98,20% 93,17% NPC1 607623 257220 Niemann-Pick disease, type C1 72,14 93,22% 88,96% NPC2 601015 607625 Niemann-pick disease, type C2 111,80 94,26% 91,62% NPHP1 607100 609583 Joubert syndrome 4 53,63 83,44% 92,51% NPHP3 608002 267010 Meckel syndrome 7 57,95 85,35% 91,68% NR2F1 132890 615722 Bosch-Boonstra-Schaaf optic atrophy syndrome 179,12 99,98% 87,54% NR5A1 184757 612964 Adrenocortical insufficiency 104,96 99,12% 96,72% NRAS 164790 613224 Noonan syndrome 6 70,79 99,59% 97,65% NRXN1 600565 614325 Pitt-Hopkins-like syndrome 2 93,74 94,43% 86,89% NSD1 606681 117550 Sotos syndrome 1 80,46 96,67% 96,23% NSDHL 300275 308050 CHILD syndrome 88,50 89,96% 95,22% NSUN2 610916 611091 Mental retardation, autosomal recessive 5 69,97 89,67% 84,98% OCLN 602876 251290 Pseudo-TORCH syndrome 1 91,07 98,52% 52,87% OCRL 300535 309000 Lowe syndrome 53,55 80,81% 96,27% OFD1 300170 311200 Orofaciodigital syndrome I 41,55 58,71% 53,84% OGT 300255 300997 Mental retardation, X-linked 106 58,48 81,82% 97,02% Mental retardation, X-linked, with cerebellar hypoplasia and OPHN1 300127 300486 63,58 82,96% 94,92% distinctive facial appearance ORC1 601902 224690 Meier-Gorlin syndrome 1 67,16 96,57% 92,29% ORC4 603056 613800 Meier-Gorlin syndrome 2 43,13 76,97% 86,09% ORC6 607213 613803 Meier-Gorlin syndrome 3 69,56 93,28% 88,59% OSGEP 610107 - Braun et al., Nat Genet 2017 : Galloway-Mowat syndrome 77,59 93,54% 86,55% OTC 300461 311250 Ornithine transcarbamylase deficiency 58,34 80,73% 92,42% Intellectual developmental disorder with dysmorphic facies, OTUD6B 612021 617452 59,33 90,80% 94,28% seizures, and distal limb anomalies PACS1 607492 615009 Schuurs-Hoeijmakers syndrome 99,20 96,44% 92,99% PAFAH1B1 601545 607432 Lissencephaly 1 38,53 68,80% 56,05% PAH 612349 261600 Phenylketonuria 68,94 97,20% 94,47% PAK3 300142 300558 Mental retardation, X-linked 30/47 48,08 72,24% 86,40% PANK2 606157 234200 Neurodegeneration with brain iron accumulation 1 81,75 98,61% 94,18% PAX1 167411 615560 Otofaciocervical syndrome 2 175,38 90,93% 93,62% PAX3 606597 122880 Craniofacial-deafness-hand syndrome 90,65 98,28% 85,08% PAX6 607108 106210 Aniridia 82,11 97,36% 93,75% PC 608786 266150 Pyruvate carboxylase deficiency 165,16 99,99% 93,36% PCDH19 300460 300088 Epileptic encephalopathy, early infantile, 9 146,24 94,77% 98,45% Fitzgerald et al., Nature 2015 : retard mental, retard PCGF2 600346 - 116,62 99,22% 90,52% dévelopemental PCNT 605925 210720 Microcephalic osteodysplastic primordial dwarfism, type II 83,36 92,26% 81,23% PDE4D 600129 614613 Acrodysostosis 2, with or without hormone resistance 65,35 89,54% 83,32% PDHA1 300502 312170 Pyruvate dehydrogenase E1-alpha deficiency 56,92 80,39% 89,05% PDHB 179060 614111 Pyruvate dehydrogenase E1-beta deficiency 65,40 91,66% 89,34% PDHX 608769 245349 Lacticacidemia due to PDX1 deficiency 82,32 96,78% 87,99% PDSS1 607429 614651 Coenzyme Q10 deficiency, primary, 2 64,35 81,83% 75,57% PDSS2 610564 614652 Coenzyme Q10 deficiency, primary, 3 78,62 88,60% 74,16% PEPD 613230 170100 Prolidase deficiency 96,85 97,99% 92,64% PEX1 602136 214100 Peroxisome biogenesis disorder 1A (Zellweger) 57,21 90,56% 94,03% PEX10 602859 614870 Peroxisome biogenesis disorder 6A (Zellweger) 103,84 91,10% 85,03% PEX11B 603867 614920 Peroxisome biogenesis disorder 14B 101,35 98,08% 91,83% PEX12 601758 614859 Peroxisome biogenesis disorder 3A (Zellweger) 77,95 99,50% 86,86% PEX13 601789 614883 Peroxisome biogenesis disorder 11A (Zellweger) 73,99 95,69% 96,60% PEX14 601791 614887 Peroxisome biogenesis disorder 13A (Zellweger) 135,10 98,66% 93,29% PEX16 603360 614876 Peroxisome biogenesis disorder 8A (Zellweger) 142,75 94,28% 83,98% PEX19 600279 614886 Peroxisome biogenesis disorder 12A (Zellweger) 79,47 99,65% 88,61% PEX2 170993 614866 Peroxisome biogenesis disorder 5A (Zellweger) 75,84 99,65% 99,47% PEX26 608666 614872 Peroxisome biogenesis disorder 7A (Zellweger) 106,27 95,45% 97,92% PEX3 603164 614882 Peroxisome biogenesis disorder 10A (Zellweger) 54,89 92,09% 96,36% PEX5 600414 214110 Peroxisome biogenesis disorder 2A (Zellweger) 99,15 98,80% 41,68% PEX6 601498 614862 Peroxisome biogenesis disorder 4A (Zellweger) 110,45 90,71% 93,30% PEX7 601757 614879 Peroxisome biogenesis disorder 9B 58,35 96,40% 97,28% PGAP1 611655 615802 Mental retardation, autosomal recessive 42 49,11 75,91% 92,65% PGAP2 615187 614207 Hyperphosphatasia with mental retardation syndrome 3 124,29 99,30% 84,85% PGAP3 611801 615716 Hyperphosphatasia with mental retardation syndrome 4 106,11 95,40% 85,76% PGK1 311800 300653 Phosphoglycerate kinase 1 deficiency 46,83 71,95% 56,15% PHC1 602978 615414 Microcephaly 11, primary, autosomal recessive 206,87 99,92% 75,58% PHF6 300414 301900 Borjeson-Forssman-Lehmann syndrome 39,01 61,60% 87,08% PHF8 300560 300263 Mental retardation syndrome, X-linked, Siderius type 72,54 87,57% 92,28% PHGDH 606879 601815 Phosphoglycerate dehydrogenase deficiency 106,83 99,57% 85,91% Webster et al., Cold Spring Harb Mol Case Stud. 2016 : DD, ID, PHIP 612870 - 55,07 83,74% 88,76% obésité et dysmorphies PIGA 311770 300868 Multiple congenital anomalies-hypotonia-seizures syndrome 2 63,66 80,17% 46,39% PIGG 616918 616917 Mental retardation, autosomal recessive 53 90,27 90,18% 77,74% PIGL 605947 280000 CHIME syndrome 101,03 98,42% 98,85% PIGN 606097 614080 Multiple congenital anomalies-hypotonia-seizures syndrome 1 41,32 70,23% 83,18% PIGO 614730 614749 Hyperphosphatasia with mental retardation syndrome 2 143,17 99,98% 96,17% PIGT 610272 615398 Multiple congenital anomalies-hypotonia-seizures syndrome 3 146,66 100,00% 89,68% PIGV 610274 239300 Hyperphosphatasia with mental retardation syndrome 1 126,04 100,00% 95,47% PIGW 610275 616025 Hyperphosphatasia with mental retardation syndrome 5 81,46 97,89% 97,31% PIGY 610662 616809 Hyperphosphatasia with mental retardation syndrome 6 45,48 93,16% 0,00% Megalencephaly-polymicrogyria-polydactyly-hydrocephalus PIK3R2 603157 603387 108,11 91,12% 88,53% syndrome 1 PLA2G6 603604 610217 Neurodegeneration with brain iron accumulation 2B 93,12 98,41% 85,29% PLCB1 607120 613722 Epileptic encephalopathy, early infantile, 12 64,09 93,84% 95,14% PLCB4 600810 614669 Auriculocondylar syndrome 2 55,31 91,24% 96,29% PLOD1 153454 225400 Ehlers-Danlos syndrome, type VI 115,83 97,86% 91,75% PLP1 300401 312080 Pelizaeus-Merzbacher disease 81,02 89,71% 87,45% PMM2 601785 212065 Congenital disorder of glycosylation, type Ia 82,01 85,96% 88,39% PNKP 605610 613402 Microcephaly, seizures, and developmental delay 114,93 99,62% 90,52% Immunodeficiency due to purine nucleoside phosphorylase PNP 164050 613179 76,23 95,43% 84,87% deficiency Short stature, onychodysplasia, facial dysmorphism, and POC1A 614783 614813 110,37 99,99% 95,76% hypotrichosis POGZ 614787 616364 White-Sutton syndrome 104,70 97,99% 96,33% POLG 174763 613662 Mitochondrial DNA depletion syndrome 4B (MNGIE type) 117,06 98,77% 81,18% POLH 603968 278750 Xeroderma pigmentosum, variant type 79,75 95,11% 88,48% Leukodystrophy, hypomyelinating, 7, with or without oligodontia POLR3A 614258 607694 70,99 97,45% 89,19% and/or hypogonadotropic hypogonadism Leukodystrophy, hypomyelinating, 8, with or without oligodontia POLR3B 614366 614381 55,34 85,10% 88,44% and/or hypogonadotropic hypogonadism Muscular dystrophy-dystroglycanopathy (congenital with mental POMGNT1 606822 613151 114,46 99,44% 94,65% retardation), type B, 3 Muscular dystrophy-dystroglycanopathy (congenital with brain POMGNT2 614828 614830 190,42 100,00% 98,19% and eye anomalies, type A, 8 Muscular dystrophy-dystroglycanopathy (congenital with brain POMK 615247 615249 108,16 99,16% 88,91% and eye anomalies), type A, 12 Muscular dystrophy-dystroglycanopathy (congenital with mental POMT1 607423 613155 107,10 98,11% 86,97% retardation), type B, 1 Muscular dystrophy-dystroglycanopathy (congenital with mental POMT2 607439 613156 83,64 98,40% 94,16% retardation), type B, 2 PORCN 300651 305600 Focal dermal hypoplasia 113,42 97,17% 88,64% Intellectual developmental disorder with gastrointestinal PPM1D 605100 617450 90,85 97,11% 95,57% difficulties and high pain threshold PPP1CB 600590 617506 Noonan syndrome-like disorder with loose anagen hair 2 52,98 89,96% 96,44% PPP2R1A 605983 616362 Mental retardation, autosomal dominant 36 138,33 99,97% 89,73% PPP2R5D 601646 616355 Mental retardation, autosomal dominant 35 120,17 99,85% 91,63% PPT1 600722 256730 Ceroid lipofuscinosis, neuronal, 1 86,04 99,23% 95,99% PQBP1 300463 309500 Renpenning syndrome 147,90 99,71% 97,21% PRICKLE1 608500 612437 Epilepsy, progressive myoclonic 1B 75,57 98,60% 95,17% Short stature, brachydactyly, intellectual developmental PRMT7 610087 617157 94,45 95,16% 85,82% disability, and seizures PRPS1 311850 301835 Arts syndrome 63,86 89,01% 60,71% PRSS12 606709 249500 Mental retardation, autosomal recessive 1 89,14 98,99% 89,04% PSAP 176801 611722 Krabbe disease, atypical 88,78 96,33% 91,32% PSMD12 604450 617516 Stankiewicz-Isidor syndrome 50,76 77,36% 77,07% PTCH1 601309 610828 Holoprosencephaly 7 102,68 96,89% 88,95% PTCHD1 300828 300830 Autism, susceptibility to, X-linked 4 94,27 96,82% 96,54% PTDSS1 612792 151050 Lenz-Majewski hyperostotic dwarfism 71,82 98,79% 94,18% PTEN 601728 158350 Cowden syndrome 1 43,62 63,68% 44,98% PTPN11 176876 151100 LEOPARD syndrome 1 49,07 71,05% 47,61% PUF60 604819 615583 Verheij syndrome 150,32 98,62% 96,28% PURA 600473 616158 Mental retardation, autosomal dominant 31 204,36 98,89% 91,07% PUS1 608109 600462 Myopathy, lactic acidosis, and sideroblastic anemia 1 101,92 91,94% 90,36% PYCR1 179035 612940 Cutis laxa, autosomal recessive, type IIB 99,68 99,43% 84,02% QDPR 612676 261630 Hyperphenylalaninemia, BH4-deficient, C 81,06 99,03% 88,83% RAB18 602207 614222 Warburg micro syndrome 3 64,49 91,63% 78,70% RAB27A 603868 607624 Griscelli syndrome, type 2 58,47 90,74% 94,04% RAB39B 300774 300271 Mental retardation, X-linked 72 81,77 97,43% 97,28% RAB3GAP1 602536 600118 Warburg micro syndrome 1 60,35 90,29% 93,76% RAB3GAP2 609275 212720 Martsolf syndrome 56,35 87,86% 88,26% RAC1 602048 617751 Mental retardation, autosomal dominant 48 59,54 85,16% 47,96% RAD21 606462 614701 Cornelia de Lange syndrome 4 47,05 76,30% 67,88% RAF1 164760 611553 Noonan syndrome 5 73,60 92,58% 0,00% RAI1 607642 182290 Smith-Magenis syndrome 200,83 99,55% 95,61% RARB 180220 615524 Microphthalmia, syndromic 12 74,13 95,00% 92,57% RARS2 611524 611523 Pontocerebellar hypoplasia, type 6 54,07 83,46% 90,72% RASA2 601589 - Aoki et al., JHG 2016 : RASopathie 44,26 78,03% 94,49% RAX 601881 611038 Microphthalmia, isolated 3 143,30 99,53% 91,20% RBBP8 604124 606744 Seckel syndrome 2 50,12 85,01% 92,70% RBM10 300080 311900 TARP syndrome 112,74 95,54% 94,45% RBM28 612074 612079 Alopecia, neurologic defects, and endocrinopathy syndrome 83,43 98,66% 92,85% RBM8A 605313 274000 Thrombocytopenia-absent radius syndrome 70,39 87,44% 0,00% RBPJ 147183 614814 Adams-Oliver syndrome 3 66,80 82,18% 45,17% RECQL4 603780 218600 Baller-Gerold syndrome 172,88 98,48% 65,74% RELN 600514 257320 Lissencephaly 2 (Norman-Roberts type) 68,39 95,30% 91,63% Neurodevelopmental disorder with or without anomalies of the RERE 605226 616975 97,45 93,13% 89,01% brain, eye, or heart RFT1 611908 612015 Congenital disorder of glycosylation, type In 69,37 90,06% 92,96% RIT1 609591 615355 Noonan syndrome 8 86,12 99,17% 92,38% RMND1 614917 614922 Combined oxidative phosphorylation deficiency 11 58,45 86,54% 65,62% RNASEH2A 606034 610333 Aicardi-Goutieres syndrome 4 125,32 100,00% 98,49% RNASEH2B 610326 610181 Aicardi-Goutieres syndrome 2 56,66 86,90% 95,34% RNASEH2C 610330 610329 Aicardi-Goutieres syndrome 3 275,95 99,43% 94,23% RNASET2 612944 612951 Leukoencephalopathy, cystic, without megalencephaly 93,58 86,35% 83,48% RNF113A 300951 300953 Trichothiodystrophy 5, nonphotosensitive 127,92 99,79% 99,53% ROGDI 614574 226750 Kohlschutter-Tonz syndrome 125,60 95,99% 86,95% RPGRIP1L 610937 611560 Joubert syndrome 7 51,39 79,49% 90,27% RPIA 180430 608611 Ribose 5-phosphate isomerase deficiency 77,65 94,94% 87,88% RPS6KA3 300075 303600 Coffin-Lowry syndrome 48,89 69,76% 93,74% RRAS 165090 - Flex et al., HMG 2014 : RASopathie 128,20 98,94% 91,03% RTEL1 608833 615190 Dyskeratosis congenita, autosomal recessive 5 141,57 98,26% 75,75% RTTN 610436 614833 Microcephaly, short stature, and polymicrogyria with seizures 57,08 88,10% 92,26% SALL1 602218 107480 Townes-Brocks branchiootorenal-like syndrome 125,61 98,73% 2,51% SAMHD1 606754 612952 Aicardi-Goutieres syndrome 5 63,40 84,48% 92,31% SATB2 608148 612313 Glass syndrome 91,47 95,23% 90,45% SC5D 602286 607330 Lathosterolosis 68,53 91,13% 92,00% SCN1A 182389 607208 Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 79,40 93,56% 80,19% SCN2A 182390 613721 Epileptic encephalopathy, early infantile, 11 86,93 92,10% 79,26% SCN8A 600702 614558 Epileptic encephalopathy, early infantile, 13 101,81 97,60% 88,93% Cardioencephalomyopathy, fatal infantile, due to cytochrome c SCO2 604272 604377 135,15 100,00% 100,00% oxidase deficiency 1 SDCCAG8 613524 615993 Bardet-Biedl syndrome 16 56,63 86,47% 90,30% SDHAF1 612848 252011 Mitochondrial complex II deficiency 72,09 99,72% 100,00% SEPSECS 613009 613811 Pontocerebellar hypoplasia type 2D 52,82 84,17% 91,23% 3-methylglutaconic aciduria with deafness, encephalopathy, SERAC1 614725 614739 50,94 84,52% 91,84% and Leigh-like syndrome SETBP1 611060 616078 Mental retardation, autosomal dominant 29 115,30 96,89% 97,86% SETD2 612778 616831 Luscan-Lumish syndrome 77,50 97,22% 97,67% SETD5 615743 615761 Mental retardation, autosomal dominant 23 87,12 93,31% 94,60% SGSH 605270 252900 Mucopolysaccharidosis type IIIA (Sanfilippo A) 118,12 87,29% 79,74% SHANK2 603290 613436 Autism susceptibility 17 71,07 49,53% 42,50% SHANK3 606230 606232 Phelan-McDermid syndrome 118,41 82,43% 87,68% SHH 600725 142945 Holoprosencephaly 3 114,25 98,34% 94,08% SHOC2 602775 607721 Noonan-like syndrome with loose anagen hair 50,16 82,85% 90,07% SHROOM4 300579 300434 Stocco dos Santos X-linked mental retardation syndrome 91,85 97,35% 91,49% SIL1 608005 248800 Marinesco-Sjogren syndrome 96,57 97,86% 86,51% SIN3A 607776 613406 Witteveen-Kolk syndrome 71,31 96,57% 87,24% SIX3 603714 157170 Holoprosencephaly 2 182,75 99,66% 89,48% SKI 164780 182212 Shprintzen-Goldberg syndrome 125,05 98,33% 93,75% SLC12A6 604878 218000 Agenesis of the corpus callosum with peripheral neuropathy 67,19 93,40% 96,00% SLC16A2 300095 300523 Allan-Herndon-Dudley syndrome 74,89 90,87% 89,09% SLC17A5 604322 604369 Salla disease 61,11 93,26% 90,92% Thiamine metabolism dysfunction syndrome 2 (biotin- or SLC19A3 606152 607483 74,26 92,39% 82,28% thiamine-responsive encephalopathy type 2) Spastic tetraplegia, thin corpus callosum, and progressive SLC1A4 600229 616657 122,06 98,91% 91,55% microcephaly SLC25A1 190315 615182 Combined D-2- and L-2-hydroxyglutaric aciduria 95,22 93,81% 56,87% SLC25A12 603667 612949 Epileptic encephalopathy, early infantile, 39 68,28 94,42% 85,44% Hyperornithinemia-hyperammonemia-homocitrullinemia SLC25A15 603861 238970 98,35 91,48% 45,25% syndrome SLC25A19 606521 607196 Microcephaly, Amish type 75,54 97,65% 82,76% SLC25A22 609302 609304 Epileptic encephalopathy, early infantile, 3 140,58 97,11% 92,65% SLC2A1 138140 606777 GLUT1 deficiency syndrome 1, infantile onset, severe 132,98 99,70% 89,71% SLC33A1 603690 614482 Congenital cataracts, hearing loss, and neurodegeneration 58,51 85,98% 80,25% SLC35A2 314375 300896 Congenital disorder of glycosylation, type IIm 111,03 97,31% 94,03% SLC35C1 605881 266265 Congenital disorder of glycosylation, type IIc 158,70 98,87% 94,61% Intellectual developmental disorder with neuropsychiatric SLC45A1 605763 617532 135,53 98,39% 59,02% features SLC46A1 611672 229050 Folate malabsorption, hereditary 111,44 98,60% 93,56% SLC4A4 603345 604278 Renal tubular acidosis, proximal, with ocular abnormalities 57,01 94,74% 95,27% SLC6A1 137165 616421 Myoclonic-atonic epilepsy 109,93 98,49% 91,47% SLC6A17 610299 616269 Mental retardation, autosomal recessive 48 130,71 99,98% 88,32% SLC6A3 126455 613135 Parkinsonism-dystonia, infantile 113,94 99,97% 84,12% SLC6A8 300036 300352 Cerebral creatine deficiency syndrome 1 153,89 97,27% 63,95% SLC7A7 603593 222700 Lysinuric protein intolerance 78,04 96,11% 58,39% SLC9A6 300231 300243 Mental retardation, X-linked syndromic, Christianson type 68,18 80,88% 90,33% SMARCA2 600014 601358 Nicolaides-Baraitser syndrome 68,65 92,82% 86,08% SMARCA4 603254 614609 Coffin-Siris syndrome 4 125,17 98,81% 92,04% SMARCB1 601607 614608 Coffin-Siris syndrome 3 139,07 98,71% 87,50% SMARCE1 603111 616938 Coffin-Siris syndrome 5 57,44 87,71% 43,01% SMC1A 300040 300590 Cornelia de Lange syndrome 2 89,20 94,26% 95,35% SMC3 606062 610759 Cornelia de Lange syndrome 3 39,54 68,40% 81,28% SMOC1 608488 206920 Microphthalmia with limb anomalies 82,09 96,45% 89,17% SMPD1 607608 257200 Niemann-Pick disease, type A 153,92 99,36% 91,71% SMS 300105 309583 Mental retardation, X-linked, Snyder-Robinson type 36,28 49,32% 43,36% Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar SNAP29 604202 609528 133,13 99,30% 91,71% keratoderma syndrome Psychomotor retardation, epilepsy, and craniofacial SNIP1 608241 614501 99,23 96,98% 91,17% dysmorphism SNX14 616105 616354 Spinocerebellar ataxia, autosomal recessive 20 42,45 72,43% 89,58% Mental retardation, anterior maxillary protrusion, and SOBP 613667 613671 143,92 95,72% 84,91% SON 182465 617140 ZTTK syndrome 99,85 92,58% 82,72% SOS1 182530 610733 Noonan syndrome 4 50,49 81,80% 92,08% SOS2 601247 616559 Noonan syndrome 9 56,45 86,11% 91,38% Waardenburg syndrome, type 2E, with or without neurologic SOX10 602229 611584 91,18 99,53% 90,17% involvement SOX11 600898 615866 Mental retardation, autosomal dominant, 27 184,62 100,00% 96,60% Optic nerve hypoplasia and abnormalities of the central SOX2 184429 206900 202,51 99,91% 28,62% nervous system SOX5 604975 616803 Lamb-Shaffer syndrome 75,13 98,30% 91,41% SPATA5 613940 616577 Epilepsy, hearing loss, and mental retardation syndrome 65,18 94,65% 95,64% SPECC1L 614140 145410 Opitz GBBB syndrome, type II 60,07 89,84% 90,94% Dystonia, dopa-responsive, due to sepiapterin reductase SPR 182125 612716 123,03 96,62% 87,47% deficiency SPRED1 609291 611431 Legius syndrome 57,13 85,34% 95,75% SPTAN1 182810 613477 Epileptic encephalopathy, early infantile, 5 84,18 95,46% 88,85% SRCAP 611421 136140 Floating-Harbor syndrome 166,13 99,58% 93,98% SRD5A3 611715 612379 Congenital disorder of glycosylation, type Iq 100,88 95,33% 44,03% ST3GAL3 606494 611090 Mental retardation, autosomal recessive 12 80,75 84,44% 77,74% ST3GAL5 604402 609056 Salt and pepper developmental regression syndrome 62,83 84,79% 96,32% STAG1 604358 617635 Mental retardation, autosomal dominant 47 50,50 84,72% 93,92% STAMBP 606247 614261 Microcephaly-capillary malformation syndrome 69,32 91,66% 89,81% STIL 181590 612703 Microcephaly 7, primary, autosomal recessive 67,34 95,21% 94,69% STRA6 610745 601186 Microphthalmia, syndromic 9 100,83 98,98% 87,21% STT3A 601134 615596 Congenital disorder of glycosylation, type Iw 64,18 98,60% 95,45% STT3B 608605 615597 Congenital disorder of glycosylation, type Ix 62,12 87,49% 89,59% STX1B 601485 616172 Generalized epilepsy with febrile seizures plus, type 9 141,35 99,63% 94,16% STXBP1 602926 612164 Epileptic encephalopathy, early infantile, 4 77,80 98,51% 94,66% Mitochondrial DNA depletion syndrome 9 (encephalomyopathic SUCLG1 611224 245400 68,34 88,35% 91,49% type with methylmalonic aciduria) SUOX 606887 272300 Sulfite oxidase deficiency 172,39 100,00% 99,71% SURF1 185620 256000 Leigh syndrome, due to COX IV deficiency 88,92 86,95% 92,29% Epilepsy, X-linked, with variable learning disabilities and SYN1 313440 300491 81,09 85,70% 91,86% behavior disorders SYNCRIP 616686 - Lelieveld et al., Nat Neurosci 2016 : ID 73,84 82,59% 72,01% SYNE1 608441 610743 Spinocerebellar ataxia, autosomal recessive 8 72,33 95,09% 89,92% SYNGAP1 603384 612621 Mental retardation, autosomal dominant 5 127,37 95,62% 15,53% SYP 313475 300802 Mental retardation, X-linked 96 88,43 95,82% 87,21% SYT14 610949 614229 Spinocerebellar ataxia, autosomal recessive 11 62,07 86,59% 71,96% TAF1 313650 300966 Mental retardation, X-linked, syndromic 33 61,57 81,29% 59,65% TAF2 604912 615599 Mental retardation, autosomal recessive 40 50,39 86,01% 92,77% TBC1D23 617687 617695 Pontocerebellar hypoplasia, type 11 47,44 80,12% 92,14% TBC1D24 613577 615338 Epileptic encephalopathy, early infantile, 16 160,61 99,79% 96,16% TBC1D7 612655 248000 Macrocephaly/megalencephaly syndrome, autosomal recessive 55,64 85,80% 92,38% TBCE 604934 241410 Hypoparathyroidism-retardation-dysmorphism syndrome 59,56 88,02% 92,69% Hypotonia, infantile, with psychomotor retardation and TBCK 616899 616900 50,42 77,54% 96,09% characteristic facies 3 TBL1XR1 608628 616944 Mental retardation, autosomal dominant 41 39,21 67,43% 82,76% Schäfgen et al., EJHG 2016 : TSA, DI, croissance excessive et TCF20 603107 - 131,86 99,98% 99,07% hypotonie TCF4 602272 610954 Pitt-Hopkins syndrome 70,36 94,98% 94,25% TCOF1 606847 154500 Treacher Collins syndrome 1 105,58 99,56% 87,34% TCTN1 609863 614173 Joubert syndrome 13 62,44 87,26% 83,82% TCTN2 613846 616654 Joubert syndrome 24 85,28 96,04% 91,46% TCTN3 613847 614815 Joubert syndrome 18 73,51 97,09% 96,44% TECPR2 615000 615031 Spastic paraplegia 49, autosomal recessive 107,98 99,02% 89,59% TECR 610057 614020 Mental retardation, autosomal recessive 14 133,79 99,10% 0,00% TFAP2A 107580 113620 Branchiooculofacial syndrome 108,95 96,20% 87,52% TGIF1 602630 142946 Holoprosencephaly 4 114,05 99,77% 80,92% TH 191290 605407 Segawa syndrome, recessive 111,17 97,91% 92,82% THOC2 300395 300957 Mental retardation, X-linked 12/35 45,33 67,48% 90,47% THOC6 615403 613680 Beaulieu-Boycott-Innes syndrome 258,27 100,00% 97,84% THRA 190120 614450 Hypothyroidism, congenital, nongoitrous, 6 143,87 99,97% 88,04% TIMM8A 300356 304700 Mohr-Tranebjaerg syndrome 71,35 85,73% 74,05% TINF2 604319 613990 Dyskeratosis congenita, autosomal dominant 3 159,87 99,99% 93,18% Craniofacial dysmorphism, skeletal anomalies, and mental TMCO1 614123 213980 58,35 89,00% 87,42% retardation syndrome TMEM107 616183 617563 Orofaciodigital syndrome XVI 131,39 98,26% 91,74% TMEM138 614459 614465 Joubert syndrome 16 68,89 99,88% 99,33% TMEM165 614726 614727 Congenital disorder of glycosylation, type IIk 92,55 97,36% 89,68% TMEM216 613277 608091 Joubert syndrome 2 64,64 96,25% 86,54% TMEM231 614949 614970 Joubert syndrome 20 85,09 95,65% 83,88% TMEM237 614423 614424 Joubert syndrome 14 64,58 85,65% 95,36% TMEM67 609884 610688 Joubert syndrome 6 49,40 80,67% 83,96% Mitochondrial complex V (ATP synthase) deficiency, nuclear TMEM70 612418 614052 59,07 89,72% 85,49% type 2 Hitomi et al., Ann Neurol 2013 : severe autosomal recessive TNK2 606994 - 133,91 97,84% 85,51% infantile-onset epilepsy and ID Thiamine metabolism dysfunction syndrome 5 (episodic TPK1 606370 614458 63,24 92,33% 98,58% encephalopathy type) TPP1 607998 609270 Spinocerebellar ataxia, autosomal recessive 7 121,09 99,92% 94,55% TRAPPC11 614138 615356 Muscular dystrophy, limb-girdle, type 2S 50,00 86,28% 94,28% TRAPPC9 611966 613192 Mental retardation, autosomal recessive 13 76,51 80,89% 75,98% TREX1 606609 225750 Aicardi-Goutieres syndrome 1, dominant and recessive 249,65 100,00% 99,81% TRIM32 602290 615988 Bardet-Biedl syndrome 11 125,20 100,00% 98,59% TRIO 601893 617061 Mental retardation, autosomal dominant 44 90,61 95,53% 90,70% Zhang et al., Hum Gen 2017 : intellectual disability with or TRIP12 604506 - without autism spectrum disorders, speech delay, and 58,61 83,82% 91,13% dysmorphic features. Microcephaly, short stature, and impaired glucose metabolism TRMT10A 616013 616033 50,48 80,40% 85,44% 1 TRMU 610230 613070 Liver failure, transient infantile 92,16 97,53% 93,14% TRPV4 605427 184252 Spondylometaphyseal dysplasia, Kozlowski type 124,16 99,65% 86,40% TSEN2 608753 612389 Pontocerebellar hypoplasia type 2B 58,43 74,97% 0,00% TSEN54 608755 277470 Pontocerebellar hypoplasia type 2A 119,74 95,46% 90,10% TSFM 604723 610505 Combined oxidative phosphorylation deficiency 3 89,35 94,19% 89,34% TSPAN7 300096 300210 Mental retardation, X-linked 58 68,53 88,67% 94,29% TTC37 614589 222470 Trichohepatoenteric syndrome 1 55,41 92,42% 93,07% TTC8 608132 615985 Bardet-Biedl syndrome 8 55,25 84,44% 93,91% TTI2 614426 615541 Mental retardation, autosomal recessive 39 77,65 99,13% 94,95% TUBA1A 602529 611603 Lissencephaly 3 140,85 100,00% 5,00% TUBA8 605742 613180 Cortical dysplasia, complex, with other brain malformations 8 149,89 99,40% 67,18% TUBB2A 615101 615763 Cortical dysplasia, complex, with other brain malformations 5 214,00 94,90% 2,79% TUBB2B 612850 610031 Cortical dysplasia, complex, with other brain malformations 7 227,61 99,93% 15,72% TUBB3 602661 614039 Cortical dysplasia, complex, with other brain malformations 1 242,30 95,25% 8,87% TUBB4A 602662 612438 Leukodystrophy, hypomyelinating, 6 214,55 97,19% 28,99% TUBG1 191135 615412 Cortical dysplasia, complex, with other brain malformations 4 201,16 100,00% 39,90% TUBGCP6 610053 251270 Microcephaly and chorioretinopathy, autosomal recessive, 1 174,36 98,63% 90,26% TUSC3 601385 611093 Mental retardation, autosomal recessive 7 66,64 94,70% 94,38% TWIST1 601622 101400 Saethre-Chotzen syndrome 158,61 98,64% 74,41% UBE2A 312180 300860 Mental retardation, X-linked syndromic, Nascimento-type 80,57 79,17% 98,88% UBE3A 601623 105830 Angelman syndrome 53,40 84,73% 49,20% UBE3B 608047 244450 Kaufman oculocerebrofacial syndrome 88,71 97,25% 90,00% UBR1 605981 243800 Johanson-Blizzard syndrome 52,54 86,18% 93,73% Hypotonia, infantile, with psychomotor retardation and UNC80 612636 616801 75,64 97,75% 92,98% characteristic facies 2 UPF3B 300298 300676 Mental retardation, X-linked, syndromic 14 51,06 62,12% 81,25% UQCRQ 612080 615159 Mitochondrial complex III deficiency, nuclear type 4 105,46 97,01% 94,10% UROC1 613012 276880 Urocanase deficiency 117,04 99,98% 94,57% USP18 607057 617397 Pseudo-TORCH syndrome 2 142,84 96,75% 12,72% USP9X 300072 300919 Mental retardation, X-linked 99 51,45 75,12% 83,59% Cerebellar hypoplasia and mental retardation with or without VLDLR 192977 224050 70,93 95,13% 92,45% quadrupedal locomotion 1 VPS13B 607817 216550 Cohen syndrome 60,71 88,14% 89,17% VRK1 602168 607596 Pontocerebellar hypoplasia type 1A 48,70 86,78% 96,66% WAC 615049 616708 Desanto-Shinawi syndrome 61,22 91,75% 93,28% WDPCP 613580 615992 Bardet-Biedl syndrome 15 54,61 76,94% 85,74% WDR26 617424 617616 Skraban-Deardorff syndrome 61,67 85,86% 93,99% WDR45 300526 300894 Neurodegeneration with brain iron accumulation 5 94,83 92,55% 73,94% Suleiman et al., Clin Genet 2017 : intellectual disability, spastic WDR45B 609226 - 64,97 72,66% 46,84% quadriplegia, epilepsy, and cerebral hypoplasia Microcephaly 2, primary, autosomal recessive, with or without WDR62 613583 604317 142,97 99,58% 89,23% cortical malformations WDR73 616144 251300 Galloway-Mowat syndrome 140,97 97,75% 95,67% Cerebellar ataxia, mental retardation, and dysequilibrium WDR81 614218 610185 177,99 99,94% 95,61% syndrome 2 WWOX 605131 616211 Epileptic encephalopathy, early infantile, 28 90,59 97,62% 98,73% XPA 611153 278700 Xeroderma pigmentosum, group A 43,15 78,33% 82,14% XPC 613208 278720 Xeroderma pigmentosum, group C 111,88 93,49% 87,49% XYLT1 608124 615777 Desbuquois dysplasia 2 114,60 94,70% 77,61% Coloboma, ocular, with or without hearing impairment, cleft YAP1 606608 120433 67,71 85,57% 74,99% lip/palate, and/or mental retardation YY1 600013 617557 Gabriele-de Vries syndrome 117,25 99,69% 92,20% ZBTB16 176797 612447 Skeletal defects, genital hypoplasia, and mental retardation 140,30 99,96% 95,34% ZBTB18 608433 612337 Mental retardation, autosomal dominant 22 157,03 98,92% 99,03% ZBTB20 606025 259050 Primrose syndrome 180,49 100,00% 97,60% Immunodeficiency-centromeric instability-facial anomalies ZBTB24 614064 614069 85,03 98,48% 92,30% syndrome-2 ZC4H2 300897 314580 Wieacker-Wolff syndrome 63,83 88,24% 80,82% ZDHHC9 300646 300799 Mental retardation, X-linked syndromic, Raymond type 64,73 90,41% 96,21% ZEB2 605802 235730 Mowat-Wilson syndrome 86,06 97,82% 77,47% ZFYVE26 612012 270700 Spastic paraplegia 15, autosomal recessive 87,62 95,08% 89,79% ZIC2 603073 609637 Holoprosencephaly 5 152,58 94,61% 82,47% ZMPSTE24 606480 608612 Mandibuloacral dysplasia with type B lipodystrophy 52,16 84,01% 88,29% ZMYND11 608668 616083 Mental retardation, autosomal dominant 30 58,22 92,61% 87,60% ZNF335 610827 615095 Microcephaly 10, primary, autosomal recessive 145,13 99,99% 93,83% ZNF41 314995 - Shoichet et al., AJHG 2013 : X-Linked Mental Retardation 70,21 91,99% 93,13% ZNF711 314990 300803 Mental retardation, X-linked 97 51,11 76,87% 94,00%

La nomenclature des gènes suit les recommandations HGCN : Genomics 79(4):464-470 (2002) [updated October 2013]. Les codes OMIM (gene, disease, phenotype) affichés ont été repris à partir de la version datant du 15 Novembre 2017. La profondeur de lecture moyenne [= Average Read Depth] est calculée sur base de 458 exomes. La couverture moyenne avec une profondeur de lecture de 30x [Length Covered Above 30x] est calculée sur base de 458 exomes. [Fraction of Length Overlapping Technical Validation] est la fraction du gène comprise dans les limites des régions capturées et inclus dans les régions de haute confiance définies par le consortium GA4GH pour laquelle la sensibilité et la précision ont été mesurées dans le dossier de validation de la technique.

Gene symbols used follow HGCN guidelines : Genomics 79(4):464-470 (2002) [updated October 2013]. OMIM release used for OMIM disease identifiers and descriptions : 15th November 2017. [Average Read Depth] describes the average number of reads seen across 458 exomes. [Length Covered Above 30x] describes the average coverage of a gene across 458 exomes in percentile. [Fraction of Length Overlapping Technical Validation] describes the fraction of a gene overlapping the technical validation file, based on targeted regions included in high confidence regions of GA4GH consortium.