1/4/2021 Artrogrypose v01

Avdeling for medisinsk genetikk

Artrogrypose

Genpanel, versjon v01

* Enkelte genomiske regioner har lav eller ingen sekvensdekning ved eksomsekvensering. Dette skyldes at de har stor likhet med andre områder i genomet, slik at spesifikk gjenkjennelse av disse områdene og påvisning av varianter i disse områdene, blir vanskelig og upålitelig. Disse genetiske regionene har vi identifisert ved å benytte USCS segmental duplication hvor områder større enn 1 kb og ≥90% likhet med andre regioner i genomet, gjenkjennes (https://genome.ucsc.edu).

For noen gener ligger alle ekson i områder med segmentale duplikasjoner: GBA

Vi gjør oppmerksom på at ved identifiseringav ekson oppstrøms for startkodon kan eksonnummereringen endres uten at transkript ID endres.

Avdelingens websider har en full oversikt over områder som er affisert av segmentale duplikasjoner.

** Transkriptets kodende ekson.

Gen Gen Ekson (HGNC (HGNC Transkript affisert av Ekson** Fenotype symbol) ID) segdup* ACTA1 129 NM_001100.4 2-7 ?Myopathy, scapulohumeroperoneal OMIM Myopathy, actin, congenital, with cores OMIM Myopathy, actin, congenital, with excess of thin myofilaments OMIM Myopathy, congenital, with fiber-type disproportion 1 OMIM Nemaline myopathy 3, autosomal dominant or recessive OMIM ADAMTS10 13201 NM_030957.4 3-26 Weill-Marchesani syndrome 1, recessive OMIM

AGRN 329 NM_198576.3 1-36 Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects OMIM

file:///data/Artrogrypose_v01-web.html 1/19 1/4/2021 Artrogrypose v01 Gen Gen Ekson (HGNC (HGNC Transkript affisert av Ekson** Fenotype symbol) ID) segdup* ALG3 23056 NM_005787.5 1-9 Congenital disorder of glycosylation, type Id OMIM ANTXR2 21732 NM_058172.6 1-17 Hyaline fibromatosis syndrome OMIM

ASCC1 24268 NM_001198800.3 2-10 Spinal muscular atrophy with congenital bone fractures 2 OMIM ASXL1 18318 NM_015338.5 1-12 Bohring-Opitz syndrome OMIM

ATAD1 25903 NM_032810.3 10 2-10 Hyperekplexia 4 OMIM

ATP1A2 800 NM_000702.4 1-23 Alternating hemiplegia of childhood 1 OMIM Migraine, familial basilar OMIM Migraine, familial hemiplegic, 2 OMIM B3GALNT2 28596 NM_152490.4 1-12 Muscular dystrophy- dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 OMIM B3GNT1 15685 NM_006876.2 1-2 Muscular dystrophy- dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 OMIM BICD2 17208 NM_001003800.1 1-7 Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant OMIM Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant OMIM BIN1 1052 NM_139343.2 1-19 Centronuclear myopathy 2 OMIM

CACNA1E 1392 NM_000721.3 1-47 Epileptic encephalopathy, early infantile, 69 OMIM

file:///data/Artrogrypose_v01-web.html 2/19 1/4/2021 Artrogrypose v01 Gen Gen Ekson (HGNC (HGNC Transkript affisert av Ekson** Fenotype symbol) ID) segdup* CACNA1S 1397 NM_000069.2 1-44 {Malignant hyperthermia susceptibility 5} OMIM {Malignant hyperthermia, susceptibility to, 5} OMIM {Thyrotoxic periodic paralysis, susceptibility to, 1} OMIM Hypokalemic periodic paralysis, type 1 OMIM CASK 1497 NM_003688.3 1-27 Mental retardation and microcephaly with pontine and cerebellar hypoplasia OMIM CFL2 1875 NM_021914.7 1-4 Nemaline myopathy 7, autosomal recessive OMIM CHAT 1912 NM_020549.4 1-15 Myasthenic syndrome, congenital, 6, presynaptic OMIM

CHRNA1 1955 NM_000079.4 1-9 Multiple pterygium syndrome, lethal type OMIM Myasthenic syndrome, congenital, 1A, slow-channel OMIM Myasthenic syndrome, congenital, 1B, fast-channel OMIM CHRNB1 1961 NM_000747.3 1-11 ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency OMIM Myasthenic syndrome, congenital, 2A, slow-channel OMIM CHRND 1965 NM_000751.3 1-12 ?Myasthenic syndrome, congenital, 3A, slow-channel OMIM ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency OMIM Multiple pterygium syndrome, lethal type OMIM Myasthenic syndrome, congenital, 3B, fast-channel OMIM

file:///data/Artrogrypose_v01-web.html 3/19 1/4/2021 Artrogrypose v01 Gen Gen Ekson (HGNC (HGNC Transkript affisert av Ekson** Fenotype symbol) ID) segdup* CHRNE 1966 NM_000080.3 1-12 Myasthenic syndrome, congenital, 4A, slow-channel OMIM Myasthenic syndrome, congenital, 4B, fast-channel OMIM Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency OMIM CHRNG 1967 NM_005199.4 1-12 Escobar syndrome OMIM Multiple pterygium syndrome, lethal type OMIM CHST14 24464 NM_130468.3 1 Ehlers-Danlos syndrome, musculocontractural type 1 OMIM

CHUK 1974 NM_001278.4 1-21 Cocoon syndrome OMIM

CNTNAP1 8011 NM_003632.2 1-24 Hypomyelinating neuropathy, congenital, 3 OMIM Lethal congenital contracture syndrome 7 OMIM COASY 29932 NM_025233.7 1-9 Neurodegeneration with brain iron accumulation 6 OMIM Pontocerebellar hypoplasia, type 12 OMIM COL12A1 2188 NM_004370.6 2-66 ?Ullrich congenital muscular dystrophy 2 OMIM Bethlem myopathy 2 OMIM COL6A1 2211 NM_001848.2 1-35 Bethlem myopathy 1 OMIM Ullrich congenital muscular dystrophy 1 OMIM COL6A2 2212 NM_001849.4 2-28 ?Myosclerosis, congenital OMIM Bethlem myopathy 1 OMIM Ullrich congenital muscular dystrophy 1 OMIM COL6A3 2213 NM_004369.3 2-44 Bethlem myopathy 1 OMIM Dystonia 27 OMIM Ullrich congenital muscular dystrophy 1 OMIM COLQ 2226 NM_005677.3 1-17 Myasthenic syndrome, congenital, 5 OMIM

file:///data/Artrogrypose_v01-web.html 4/19 1/4/2021 Artrogrypose v01 Gen Gen Ekson (HGNC (HGNC Transkript affisert av Ekson** Fenotype symbol) ID) segdup* CRLF1 2364 NM_004750.4 1-9 Cold-induced sweating syndrome 1 OMIM DAG1 2666 NM_004393.5 2-3 Muscular dystrophy- dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 OMIM Muscular dystrophy- dystroglycanopathy (limb-girdle), type C, 9 OMIM DHCR24 2859 NM_014762.4 1-9 Desmosterolosis OMIM

DNM2 2974 NM_001005360.2 1-21 Centronuclear myopathy 1 OMIM Charcot-Marie-Tooth disease, axonal type 2M OMIM Charcot-Marie-Tooth disease, dominant intermediate B OMIM Lethal congenital contracture syndrome 5 OMIM DOK7 26594 NM_173660.4 1-7 Fetal akinesia deformation sequence 3 OMIM Myasthenic syndrome, congenital, 10 OMIM DPAGT1 2995 NM_001382.3 1-9 Congenital disorder of glycosylation, type Ij OMIM Myasthenic syndrome, congenital, 13, with tubular aggregates OMIM DPM2 3006 NM_003863.3 1-4 Congenital disorder of glycosylation, type Iu OMIM

DYNC1H1 2961 NM_001376.4 1-78 Charcot-Marie-Tooth disease, axonal, type 20 OMIM Mental retardation, autosomal dominant 13 OMIM Spinal muscular atrophy, lower extremity-predominant 1, AD OMIM ECEL1 3147 NM_004826.4 2-18 Arthrogryposis, distal, type 5D OMIM

file:///data/Artrogrypose_v01-web.html 5/19 1/4/2021 Artrogrypose v01 Gen Gen Ekson (HGNC (HGNC Transkript affisert av Ekson** Fenotype symbol) ID) segdup* EGR2 3239 NM_000399.3 1-2 Charcot-Marie-Tooth disease, type 1D OMIM Dejerine-Sottas disease OMIM Hypomyelinating neuropathy, congenital, 1 OMIM ERBB3 3431 NM_001982.3 1-28 ?Lethal congenital contractural syndrome 2 OMIM ERCC5 3437 NM_000123.3 1-15 Cerebrooculofacioskeletal syndrome 3 OMIM Xeroderma pigmentosum, group G OMIM Xeroderma pigmentosum, group G/Cockayne syndrome OMIM ERCC6 3438 NM_000124.3 2-21 Cerebrooculofacioskeletal syndrome 1 OMIM Cockayne syndrome, type B OMIM De Sanctis-Cacchione syndrome OMIM UV-sensitive syndrome 1 OMIM ERCC8 3439 NM_000082.3 1-12 Cockayne syndrome, type A OMIM

EXOSC3 17944 NM_016042.4 1-4 Pontocerebellar hypoplasia, type 1B OMIM

FAM20C 22140 NM_020223.3 1-10 Raine syndrome OMIM

FBN2 3604 NM_001999.3 1-65 Contractural arachnodactyly, congenital OMIM

FGFR2 3689 NM_000141.4 2-18 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis OMIM FGFR3 3690 NM_000142.4 2-18 CATSHL syndrome OMIM

file:///data/Artrogrypose_v01-web.html 6/19 1/4/2021 Artrogrypose v01 Gen Gen Ekson (HGNC (HGNC Transkript affisert av Ekson** Fenotype symbol) ID) segdup* FHL1 3702 NM_001449.4 7 3-7 ?Uruguay faciocardiomusculoskeletal syndrome OMIM Emery-Dreifuss muscular dystrophy 6, X-linked OMIM Myopathy, X-linked, with postural muscle atrophy OMIM Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset OMIM Reducing body myopathy, X-linked 1b, with late childhood or adult onset OMIM Scapuloperoneal myopathy, X-linked dominant OMIM FKBP10 18169 NM_021939.4 1-10 Bruck syndrome 1 OMIM

FKRP 17997 NM_024301.4 4 Muscular dystrophy- dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 OMIM Muscular dystrophy- dystroglycanopathy (congenital with or without mental retardation), type B, 5 OMIM Muscular dystrophy- dystroglycanopathy (limb-girdle), type C, 5 OMIM FKTN 3622 NM_001079802.1 3-11 Cardiomyopathy, dilated, 1X OMIM Muscular dystrophy- dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 OMIM Muscular dystrophy- dystroglycanopathy (congenital without mental retardation), type B, 4 OMIM Muscular dystrophy- dystroglycanopathy (limb-girdle), type C, 4 OMIM

file:///data/Artrogrypose_v01-web.html 7/19 1/4/2021 Artrogrypose v01 Gen Gen Ekson (HGNC (HGNC Transkript affisert av Ekson** Fenotype symbol) ID) segdup* FLNB 3755 NM_001457.3 1-46 Larsen syndrome OMIM

FLVCR2 20105 NM_017791.3 1-10 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome OMIM GBA 4177 NM_001005741.3 2-12 2-12 Gaucher disease, perinatal lethal OMIM Gaucher disease, type I OMIM Gaucher disease, type II OMIM Gaucher disease, type III OMIM Gaucher disease, type IIIC OMIM GBE1 4180 NM_000158.3 1-16 Glycogen storage disease IV OMIM Polyglucosan body disease, adult form OMIM GFPT1 4241 NM_002056.3 1-19 Myasthenia, congenital, 12, with tubular aggregates OMIM

GLDN 29514 NM_181789.4 1-10 Lethal congenital contracture syndrome 11 OMIM

GLE1 4315 NM_001003722.1 1-16 Congenital arthrogryposis with anterior horn cell disease OMIM Lethal congenital contracture syndrome 1 OMIM GMPPB 22932 NM_013334.3 1-8 Muscular dystrophy- dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 OMIM Muscular dystrophy- dystroglycanopathy (congenital with mental retardation), type B, 14 OMIM Muscular dystrophy- dystroglycanopathy (limb-girdle), type C, 14 OMIM GPR126 13841 NM_020455.5 1-26 Intellectual disability, microcephaly and spasticity PubMed

HSPG2 5273 NM_005529.6 1-97 Schwartz-Jampel syndrome, type 1 OMIM

file:///data/Artrogrypose_v01-web.html 8/19 1/4/2021 Artrogrypose v01 Gen Gen Ekson (HGNC (HGNC Transkript affisert av Ekson** Fenotype symbol) ID) segdup* IRF6 6121 NM_006147.4 3-9 Popliteal pterygium syndrome 1 OMIM ISPD 37276 NM_001101426.3 1-10 Muscular dystrophy- dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 OMIM Muscular dystrophy- dystroglycanopathy (limb-girdle), type C, 7 OMIM KAT6B 17582 NM_012330.4 3-18 Genitopatellar syndrome OMIM

KIAA1109 26953 NM_015312.3 1-84 Alkuraya-Kucinskas syndrome OMIM

KLHL40 30372 NM_152393.4 1-6 Nemaline myopathy 8, autosomal recessive OMIM KLHL41 16905 NM_006063.2 1-6 Nemaline myopathy 9 OMIM

KLHL7 15646 NM_001031710.3 1-11 PERCHING syndrome OMIM

LAMA2 6482 NM_000426.3 1-65 Muscular dystrophy, congenital, merosin deficient or partially deficient OMIM Muscular dystrophy, limb-girdle, autosomal recessive 23 OMIM LARGE 6511 NM_004737.5 3-16 Muscular dystrophy- dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 OMIM Muscular dystrophy- dystroglycanopathy (congenital with mental retardation), type B, 6 OMIM LGI4 18712 NM_139284.2 1-9 Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect OMIM

file:///data/Artrogrypose_v01-web.html 9/19 1/4/2021 Artrogrypose v01 Gen Gen Ekson (HGNC (HGNC Transkript affisert av Ekson** Fenotype symbol) ID) segdup* LMNA 6636 NM_170707.4 1-12 Charcot-Marie-Tooth disease, type 2B1 OMIM Emery-Dreifuss muscular dystrophy 2, autosomal dominant OMIM Emery-Dreifuss muscular dystrophy 3, autosomal recessive OMIM Muscular dystrophy, congenital OMIM Restrictive dermopathy, lethal OMIM LMOD3 6649 NM_198271.4 1-3 Nemaline myopathy 10 OMIM

LMX1B 6654 NM_002316.3 1-8 Nail-patella syndrome OMIM

MAGEL2 6814 NM_019066.4 1 Schaaf-Yang syndrome OMIM

MPZ 7225 NM_000530.7 1-6 Charcot-Marie-Tooth disease, dominant intermediate D OMIM Charcot-Marie-Tooth disease, type 1B OMIM Charcot-Marie-Tooth disease, type 2I OMIM Charcot-Marie-Tooth disease, type 2J OMIM Dejerine-Sottas disease OMIM Hypomyelinating neuropathy, congenital, 2 OMIM Roussy-Levy syndrome OMIM MTM1 7448 NM_000252.2 2-15 Myotubular myopathy, X-linked OMIM

MUSK 7525 NM_005592.3 1-14 Fetal akinesia deformation sequence 1 OMIM Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency OMIM MYBPC1 7549 NM_002465.3 1-31 Arthrogryposis, distal, type 1B OMIM Lethal congenital contracture syndrome 4 OMIM Myopathy, congenital, with tremor OMIM

file:///data/Artrogrypose_v01-web.html 10/19 1/4/2021 Artrogrypose v01 Gen Gen Ekson (HGNC (HGNC Transkript affisert av Ekson** Fenotype symbol) ID) segdup* MYH2 7572 NM_017534.5 3-40 Proximal myopathy and ophthalmoplegia OMIM MYH3 7573 NM_002470.3 3-41 Arthrogryposis, distal, type 2A (Freeman-Sheldon) OMIM Arthrogryposis, distal, type 2B3 (Sheldon-Hall) OMIM Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A OMIM Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B OMIM MYH7 7577 NM_000257.3 3-40 Laing distal myopathy OMIM Myopathy, myosin storage, autosomal dominant OMIM Myopathy, myosin storage, autosomal recessive OMIM Scapuloperoneal syndrome, myopathic type OMIM MYH8 7578 NM_002472.3 3-40 Carney complex variant OMIM Trismus-pseudocamptodactyly syndrome OMIM MYL1 7582 NM_079420.3 1-6 Myopathy, congenital, with fast-twitch (type II) fiber atrophy OMIM

MYO18B 18150 NM_032608.5 2-43 Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism OMIM NALCN 19082 NM_052867.2 2-44 Congenital contractures of the limbs and face, hypotonia, and developmental delay OMIM Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 OMIM NEB 7720 NM_001271208.1 82-105 3-183 Nemaline myopathy 2, autosomal recessive OMIM

NUP88 8067 NM_002532.4 1-17 Fetal akinesia deformation sequence 4 OMIM

file:///data/Artrogrypose_v01-web.html 11/19 1/4/2021 Artrogrypose v01 Gen Gen Ekson (HGNC (HGNC Transkript affisert av Ekson** Fenotype symbol) ID) segdup* ORAI1 25896 NM_032790.3 1-2 Immunodeficiency 9 OMIM Myopathy, tubular aggregate, 2 OMIM PEX1 8850 NM_000466.2 1-24 Heimler syndrome 1 OMIM Peroxisome biogenesis disorder 1A (Zellweger) OMIM Peroxisome biogenesis disorder 1B (NALD/IRD) OMIM PEX10 8851 NM_153818.1 1-6 Peroxisome biogenesis disorder 6A (Zellweger) OMIM Peroxisome biogenesis disorder 6B OMIM PEX11B 8853 NM_003846.2 1-4 ?Peroxisome biogenesis disorder 14B OMIM PEX12 8854 NM_000286.2 1-3 Peroxisome biogenesis disorder 3A (Zellweger) OMIM Peroxisome biogenesis disorder 3B OMIM PEX13 8855 NM_002618.4 1-4 Peroxisome biogenesis disorder 11A (Zellweger) OMIM Peroxisome biogenesis disorder 11B OMIM PEX14 8856 NM_004565.2 1-9 Peroxisome biogenesis disorder 13A (Zellweger) OMIM

PEX16 8857 NM_004813.3 1-11 Peroxisome biogenesis disorder 8A (Zellweger) OMIM Peroxisome biogenesis disorder 8B OMIM PEX19 9713 NM_002857.3 1-8 Peroxisome biogenesis disorder 12A (Zellweger) OMIM

PEX2 9717 NM_000318.2 4 Peroxisome biogenesis disorder 5A (Zellweger) OMIM Peroxisome biogenesis disorder 5B OMIM PEX26 22965 NM_017929.6 2-6 Peroxisome biogenesis disorder 7A (Zellweger) OMIM Peroxisome biogenesis disorder 7B OMIM

file:///data/Artrogrypose_v01-web.html 12/19 1/4/2021 Artrogrypose v01 Gen Gen Ekson (HGNC (HGNC Transkript affisert av Ekson** Fenotype symbol) ID) segdup* PEX3 8858 NM_003630.3 1-12 ?Peroxisome biogenesis disorder 10B OMIM Peroxisome biogenesis disorder 10A (Zellweger) OMIM PEX5 9719 NM_001131025.1 2-16 Peroxisome biogenesis disorder 2A (Zellweger) OMIM Peroxisome biogenesis disorder 2B OMIM Rhizomelic chondrodysplasia punctata, type 5 OMIM PEX6 8859 NM_000287.3 1-17 Heimler syndrome 2 OMIM Peroxisome biogenesis disorder 4A (Zellweger) OMIM Peroxisome biogenesis disorder 4B OMIM PEX7 8860 NM_000288.4 1-10 Peroxisome biogenesis disorder 9B OMIM Rhizomelic chondrodysplasia punctata, type 1 OMIM PFKM 8877 NM_000289.5 2-23 Glycogen storage disease VII OMIM

PIEZO2 26270 NM_022068.3 4 1-52 ?Marden-Walker syndrome OMIM Arthrogryposis, distal, type 3 OMIM Arthrogryposis, distal, type 5 OMIM Arthrogryposis, distal, with impaired proprioception and touch OMIM PIP5K1C 8996 NM_012398.2 1-18 Lethal congenital contractural syndrome 3 OMIM

PLOD1 9081 NM_000302.4 1-19 Ehlers-Danlos syndrome, kyphoscoliotic type, 1 OMIM PLOD2 9082 NM_182943.3 1-20 Bruck syndrome 2 OMIM

PMM2 9115 NM_000303.2 1-8 Congenital disorder of glycosylation, type Ia OMIM

file:///data/Artrogrypose_v01-web.html 13/19 1/4/2021 Artrogrypose v01 Gen Gen Ekson (HGNC (HGNC Transkript affisert av Ekson** Fenotype symbol) ID) segdup* POMGNT1 19139 NM_017739.3 2-22 Muscular dystrophy- dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 OMIM Muscular dystrophy- dystroglycanopathy (congenital with mental retardation), type B, 3 OMIM Muscular dystrophy- dystroglycanopathy (limb-girdle), type C, 3 OMIM POMGNT2 25902 NM_032806.6 2 Muscular dystrophy- dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 OMIM Muscular dystrophy- dystroglycanopathy (limb-girdle) type C, 8 OMIM POMK 26267 NM_032237.5 4-5 ?Muscular dystrophy- dystroglycanopathy (limb-girdle), type C, 12 OMIM Muscular dystrophy- dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 OMIM POMT1 9202 NM_007171.3 2-20 Muscular dystrophy- dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 OMIM Muscular dystrophy- dystroglycanopathy (congenital with mental retardation), type B, 1 OMIM Muscular dystrophy- dystroglycanopathy (limb-girdle), type C, 1 OMIM

file:///data/Artrogrypose_v01-web.html 14/19 1/4/2021 Artrogrypose v01 Gen Gen Ekson (HGNC (HGNC Transkript affisert av Ekson** Fenotype symbol) ID) segdup* POMT2 19743 NM_013382.5 1-21 Muscular dystrophy- dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 OMIM Muscular dystrophy- dystroglycanopathy (congenital with mental retardation), type B, 2 OMIM Muscular dystrophy- dystroglycanopathy (limb-girdle), type C, 2 OMIM POR 9208 NM_000941.2 2-16 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis OMIM PPP3CA 9314 NM_000944.4 1-14 Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development OMIM Epileptic encephalopathy, infantile or early childhood, 1 OMIM PRG4 9364 NM_005807.4 2-13 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome OMIM RAPSN 9863 NM_005055.4 1-8 Fetal akinesia deformation sequence 2 OMIM Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency OMIM RARS2 21406 NM_020320.3 1-20 Pontocerebellar hypoplasia, type 6 OMIM RIPK4 496 NM_020639.2 1-8 Popliteal pterygium syndrome, Bartsocas-Papas type OMIM

RYR1 10483 NM_000540.2 1-106 {Malignant hyperthermia susceptibility 1} OMIM Central core disease OMIM King-Denborough syndrome OMIM Minicore myopathy with external ophthalmoplegia OMIM Neuromuscular disease, congenital, with uniform type 1 fiber OMIM

file:///data/Artrogrypose_v01-web.html 15/19 1/4/2021 Artrogrypose v01 Gen Gen Ekson (HGNC (HGNC Transkript affisert av Ekson** Fenotype symbol) ID) segdup* SCARF2 19869 NM_153334.6 1-12 Van den Ende-Gupta syndrome OMIM

SCN1A 10585 NM_001165963.1 1-26 Dravet syndrome OMIM Epilepsy, generalized, with febrile seizures plus, type 2 OMIM Febrile seizures, familial, 3A OMIM Migraine, familial hemiplegic, 3 OMIM SCN4A 10591 NM_000334.4 1-24 Hyperkalemic periodic paralysis, type 2 OMIM Hypokalemic periodic paralysis, type 2 OMIM Myasthenic syndrome, congenital, 16 OMIM Myotonia congenita, atypical, acetazolamide-responsive OMIM Paramyotonia congenita OMIM SCO2 10604 NM_005138.2 2 Mitochondrial complex IV deficiency, nuclear type 2 OMIM

SEPN1 15999 NM_020451.2 1-13 Muscular dystrophy, rigid spine, 1 OMIM Myopathy, congenital, with fiber-type disproportion OMIM SKI 10896 NM_003036.3 1-7 Shprintzen-Goldberg syndrome OMIM

SLC18A3 10936 NM_003055.2 1 Myasthenic syndrome, congenital, 21, presynaptic OMIM

SLC5A7 14025 NM_021815.5 2-9 Myasthenic syndrome, congenital, 20, presynaptic OMIM Neuronopathy, distal hereditary motor, type VIIA OMIM SLC6A9 11056 NM_201649.3 1-14 Glycine encephalopathy with normal serum glycine OMIM

SMAD3 6769 NM_005902.3 1-9 Loeys-Dietz syndrome 3 OMIM

SMAD4 6770 NM_005359.5 2-12 Myhre syndrome OMIM

file:///data/Artrogrypose_v01-web.html 16/19 1/4/2021 Artrogrypose v01 Gen Gen Ekson (HGNC (HGNC Transkript affisert av Ekson** Fenotype symbol) ID) segdup* SMPD4 32949 NM_017951.4 1-20 1-20 Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies OMIM STAC3 28423 NM_145064.2 2-12 Myopathy, congenital, Baily-Bloch OMIM

STIM1 11386 NM_003156.3 1-12 Immunodeficiency 10 OMIM Myopathy, tubular aggregate, 1 OMIM Stormorken syndrome OMIM TGFB2 11768 NM_003238.6 1-7 Loeys-Dietz syndrome 4 OMIM

TGFB3 11769 NM_003239.3 1-7 Loeys-Dietz syndrome 5 OMIM

TGFBR1 11772 NM_004612.3 1-9 Loeys-Dietz syndrome 1 OMIM

TGFBR2 11773 NM_003242.5 1-7 Loeys-Dietz syndrome 2 OMIM

TK2 11831 NM_004614.4 1-10 ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 OMIM Mitochondrial DNA depletion syndrome 2 (myopathic type) OMIM TMEM5 13530 NM_014254.2 1-6 Muscular dystrophy- dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 OMIM TMEM8C 33778 NM_001080483.2 1-5 Carey-Fineman-Ziter syndrome OMIM

TNNI2 11946 NM_003282.4 2-7 Arthrogryposis, distal, type 2B1 OMIM

TNNT1 11948 NM_003283.5 2-14 Nemaline myopathy 5, Amish type OMIM TNNT3 11950 NM_006757.3 2-16 Arthrogryposis, distal, type 2B2 OMIM

file:///data/Artrogrypose_v01-web.html 17/19 1/4/2021 Artrogrypose v01 Gen Gen Ekson (HGNC (HGNC Transkript affisert av Ekson** Fenotype symbol) ID) segdup* TOR1A 3098 NM_000113.3 1-5 Arthrogryposis multiplex congenita 5 OMIM Dystonia-1, torsion OMIM TPM2 12011 NM_003289.3 1-9 Arthrogryposis, distal, type 1A OMIM Arthrogryposis, distal, type 2B4 OMIM CAP myopathy 2 OMIM Nemaline myopathy 4, autosomal dominant OMIM TPM3 12012 NM_152263.3 1-10 CAP myopathy 1 OMIM Myopathy, congenital, with fiber-type disproportion OMIM Nemaline myopathy 1, autosomal dominant or recessive OMIM TRIP4 12310 NM_016213.4 1-13 ?Muscular dystrophy, congenital, Davignon-Chauveau type OMIM Spinal muscular atrophy with congenital bone fractures 1 OMIM TRPV4 18083 NM_021625.5 2-16 Brachyolmia type 3 OMIM Digital arthropathy-brachydactyly, familial OMIM Hereditary motor and sensory neuropathy, type IIc OMIM Metatropic dysplasia OMIM Neuronopathy, distal hereditary motor, type VIII OMIM Scapuloperoneal spinal muscular atrophy OMIM TSEN2 28422 NM_025265.3 2-12 Pontocerebellar hypoplasia type 2B OMIM TSEN54 27561 NM_207346.2 1-11 ?Pontocerebellar hypoplasia type 5 OMIM Pontocerebellar hypoplasia type 2A OMIM Pontocerebellar hypoplasia type 4 OMIM

file:///data/Artrogrypose_v01-web.html 18/19 1/4/2021 Artrogrypose v01 Gen Gen Ekson (HGNC (HGNC Transkript affisert av Ekson** Fenotype symbol) ID) segdup* TTN 12403 NM_133378.4 154-155 2-312 Muscular dystrophy, limb-girdle, autosomal recessive 10 OMIM Myopathy, myofibrillar, 9, with early respiratory failure OMIM Salih myopathy OMIM Tibial muscular dystrophy, tardive OMIM UBA1 12469 NM_003334.4 2-26 Spinal muscular atrophy, X-linked 2, infantile OMIM

VAMP1 12642 NM_014231.5 1-5 Myasthenic syndrome, congenital, 25 OMIM Spastic ataxia 1, autosomal dominant OMIM VIPAS39 20347 NM_022067.4 3-21 Arthrogryposis, renal dysfunction, and cholestasis 2 OMIM

VPS33B 12712 NM_018668.4 1-23 Arthrogryposis, renal dysfunction, and cholestasis 1 OMIM VRK1 12718 NM_003384.2 2-13 Pontocerebellar hypoplasia type 1A OMIM

ZBTB42 32550 NM_001137601.3 1 ?Lethal congenital contracture syndrome 6 OMIM ZC4H2 24931 NM_018684.4 1-5 Wieacker-Wolff syndrome OMIM Wieacker-Wolff syndrome, female- restricted OMIM ZMPSTE24 12877 NM_005857.4 1-10 Mandibuloacral dysplasia with type B lipodystrophy OMIM Restrictive dermopathy, lethal OMIM

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