Migrasjonsforstyrrelser Og Pontocerebellær Hypoplasi

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Migrasjonsforstyrrelser og pontocerebellær hypoplasi

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Panelet het tidligere 'Kortikale malformasjoner og pontocerebellær hypoplasi'.

Tabellen er sortert på gennavn (HGNC gensymbol) Navn på gen er iht. HGNC Kolonnen >x10 viser andel av genet som vi forventer blir lest med tilfredstillende kvalitet ﬂere enn 10 ganger under sekvensering

Gen Transkript >10x Fenotype ACTB NM_001101.3 100% ?Dystonia, juvenile-onset OMIM Baraitser-Winter syndrome 1 OMIM

ACTG1 NM_001614.3 100% Baraitser-Winter syndrome 2 OMIM

AKT1 NM_005163.2 100% Cowden syndrome 6 OMIM Proteus syndrome, somatic OMIM

AKT3 NM_005465.4 100% Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 OMIM

AMPD2 NM_001257360.1 100% Pontocerebellar hypoplasia, type 9 OMIM ?Spastic paraplegia 63 OMIM

AP1S2 NM_003916.4 91% Mental retardation, X-linked syndromic 5 OMIM

ARFGEF2 NM_006420.2 100% Periventricular heterotopia with microcephaly OMIM

ARX NM_139058.2 89% Epileptic encephalopathy, early infantile, 1 OMIM Proud syndrome OMIM Partington syndrome OMIM Mental retardation, X-linked 29 and others OMIM Lissencephaly, X-linked 2 OMIM Hydranencephaly with abnormal genitalia OMIM ASNS NM_133436.3 99% Asparagine synthetase deﬁciency OMIM

ASPM NM_018136.4 100% Microcephaly 5, primary, autosomal recessive OMIM

ASXL1 NM_015338.5 100% Bohring-Opitz syndrome OMIM

ATP6V0A2 NM_012463.3 100% Cutis laxa, autosomal recessive, type IIA OMIM Wrinkly skin syndrome OMIM

ATR NM_001184.3 99% Seckel syndrome 1 OMIM Gen Transkript >10x Fenotype B3GALNT2 NM_152490.4 100% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 OMIM

B3GNT1 NM_006876.2 100% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 13 OMIM

CASC5 NM_170589.4 99% Microcephaly 3, primary, autosomal recessive OMIM

CASK NM_003688.3 100% Mental retardation, with or without nystagmus OMIM Mental retardation and microcephaly with pontine and cerebellar hypoplasia OMIM FG syndrome 4 OMIM CCDC22 NM_014008.4 99% Ritscher-Schinzel syndrome 2 OMIM

CCND2 NM_001759.3 100% Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 OMIM

CDK5 NM_004935.3 100% Lissencephaly 7 with cerebellar hypoplasia OMIM

CDK5RAP2 NM_018249.5 100% Microcephaly 3, primary, autosomal recessive OMIM

CENPJ NM_018451.4 100% Microcephaly 6, primary, autosomal recessive OMIM ?Seckel syndrome 4 OMIM

CEP152 NM_014985.3 99% Seckel syndrome 5 OMIM Microcephaly 9, primary, autosomal recessive OMIM

CHMP1A NM_002768.4 100% Pontocerebellar hypoplasia, type 8 OMIM

CLP1 NM_006831.2 100% Pontocerebellar hypoplasia, type 10 OMIM

CNTNAP2 NM_014141.5 100% Cortical dysplasia-focal epilepsy syndrome OMIM Pitt-Hopkins like syndrome 1 OMIM

COL18A1 NM_130445.3 99% Knobloch syndrome, type 1 OMIM

COL4A1 NM_001845.5 99% Porencephaly 1 OMIM Brain small vessel disease with or without ocular anomalies OMIM Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps OMIM COL4A2 NM_001846.2 100% Porencephaly 2 OMIM

CRB2 NM_173689.6 100% Ventriculomegaly with cystic kidney disease OMIM

CUL4B NM_003588.3 99% Mental retardation, X-linked, syndromic 15 (Cabezas type) OMIM Gen Transkript >10x Fenotype DAG1 NM_004393.5 100% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 OMIM

DCHS1 NM_003737.3 99% Van Maldergem syndrome 1 OMIM

DCX NM_178153.2 100% Lissencephaly, X-linked OMIM Subcortical laminal heteropia, X-linked OMIM

DEPDC5 NM_001242896.1 100% Epilepsy, familial focal, with variable foci OMIM

DKC1 NM_001363.4 100% Dyskeratosis congenita, X-linked OMIM

DNMT3A NM_175629.2 99% Tatton-Brown-Rahman syndrome OMIM

DYNC1H1 NM_001376.4 100% Mental retardation, autosomal dominant 13 OMIM

EMG1 NM_006331.7 100% Bowen-Conradi syndrome OMIM

EML1 NM_004434.2 100% Subcortical band heterotopia, atypical PubMed

EPG5 NM_020964.2 99% Vici syndrome OMIM

ERCC1 NM_202001.2 100% Cerebrooculofacioskeletal syndrome 4 OMIM

ERCC5 NM_000123.3 100% Xeroderma pigmentosum, group G/Cockayne syndrome OMIM Xeroderma pigmentosum, group G OMIM Cerebrooculofacioskeletal syndrome 3 OMIM ERCC6 NM_000124.3 100% De Sanctis-Cacchione syndrome OMIM Cockayne syndrome, type B OMIM Cerebrooculofacioskeletal syndrome 1 OMIM ERMARD NM_018341.2 100% ?Periventricular nodular heterotopia 6 OMIM

EXOSC3 NM_016042.3 99% Pontocerebellar hypoplasia, type 1B OMIM

EXOSC8 NM_181503.2 100% Pontocerebellar hypoplasia, type 1C OMIM

EZH2 NM_004456.4 100% Weaver syndrome OMIM

FAT4 NM_024582.4 100% Van Maldergem syndrome 2 OMIM Gen Transkript >10x Fenotype FKRP NM_024301.4 100% Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 OMIM Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 OMIM FKTN NM_001079802.1 100% Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 OMIM Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 OMIM FLNA NM_001456.3 100% FG syndrome 2 OMIM Heterotopia, periventricular, ED variant OMIM Heterotopia, periventricular OMIM Otopalatodigital syndrome, type II OMIM FLVCR2 NM_017791.2 100% Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome OMIM

GFAP NM_002055.4 100% Alexander disease OMIM

GMPPB NM_021971.2 100% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 OMIM Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 OMIM GPR56 NM_005682.6 100% Polymicrogyria, bilateral perisylvian OMIM Polymicrogyria, bilateral frontoparietal OMIM

GPSM2 NM_013296.4 100% Chudley-McCullough syndrome OMIM

HEPACAM NM_152722.4 97% Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation OMIM Megalencephalic leukoencephalopathy with subcortical cysts 2A OMIM IER3IP1 NM_016097.4 99% Microcephaly, epilepsy, and diabetes syndrome OMIM

ISPD NM_001101426.3 100% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 OMIM

JAM3 NM_032801.4 100% Hemorrhagic destruction of the brain, subependymal calciﬁcation, and cataracts OMIM

KATNB1 NM_005886.2 100% Lissencephaly 6, with microcephaly OMIM

KIAA0196 NM_014846.3 100% Ritscher-Schinzel syndrome 1 OMIM

KIAA1279 NM_015634.3 100% Goldberg-Shprintzen megacolon syndrome OMIM

KIF11 NM_004523.3 99% Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation OMIM Gen Transkript >10x Fenotype KIF2A NM_001098511.2 100% Cortical dysplasia, complex, with other brain malformations 3 OMIM

KIF5C NM_004522.2 100% Cortical dysplasia, complex, with other brain malformations 2 OMIM

KPTN NM_007059.3 100% Mental retardation, autosomal recessive 41 OMIM

L1CAM NM_000425.4 99% Hydrocephalus with congenital idiopathic intestinal pseudoobstruction OMIM Hydrocephalus due to aqueductal stenosis OMIM CRASH syndrome OMIM Corpus callosum, partial agenesis of OMIM MASA syndrome OMIM Hydrocephalus with Hirschsprung disease OMIM LAMA2 NM_000426.3 100% Muscular dystrophy, congenital, due to partial LAMA2 deﬁciency OMIM Muscular dystrophy, congenital merosin-deﬁcient OMIM LAMB1 NM_002291.2 100% Lissencephaly 5 OMIM

LAMC3 NM_006059.3 100% Cortical malformations, occipital OMIM

LARGE NM_004737.4 100% Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 OMIM Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 OMIM MCPH1 NM_024596.3 100% Microcephaly 1, primary, autosomal recessive OMIM

MED12 NM_005120.2 99% Opitz-Kaveggia syndrome OMIM Ohdo syndrome, X-linked OMIM Lujan-Fryns syndrome OMIM MLC1 NM_015166.3 100% Megalencephalic leukoencephalopathy with subcortical cysts OMIM

MTOR NM_004958.3 100% Smith-Kingsmore syndrome OMIM

MYCN NM_005378.5 100% Feingold syndrome OMIM

NBN NM_002485.4 100% Nijmegen breakage syndrome OMIM

NDE1 NM_001143979.1 100% Lissencephaly 4 (with microcephaly) OMIM ?Microhydranencephaly OMIM

NFIX NM_002501.3 100% Marshall-Smith syndrome OMIM Sotos syndrome 2 OMIM Gen Transkript >10x Fenotype NSD1 NM_022455.4 100% Sotos syndrome 1 OMIM

NSDHL NM_015922.2 100% CK syndrome OMIM CHILD syndrome OMIM

OCLN NM_002538.3 96% Band-like calciﬁcation with simpliﬁed gyration and polymicrogyria OMIM

OFD1 NM_003611.2 95% Simpson-Golabi-Behmel syndrome, type 2 OMIM Orofaciodigital syndrome I OMIM Joubert syndrome 10 OMIM OPHN1 NM_002547.2 100% Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance OMIM

PAFAH1B1 NM_000430.3 98% Lissencephaly 1 OMIM Subcortical laminar heterotopia OMIM

PCNT NM_006031.5 99% Microcephalic osteodysplastic primordial dwarﬁsm, type II OMIM

PIK3CA NM_006218.2 100% Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic OMIM Cowden syndrome 5 OMIM PIK3R2 NM_005027.3 95% Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 OMIM

PLK4 NM_014264.4 100% Microcephaly and chorioretinopathy, autosomal recessive, 2 OMIM

PNKP NM_007254.3 100% Microcephaly, seizures, and developmental delay OMIM Ataxia-oculomotor apraxia 4 OMIM

POMGNT1 NM_017739.3 100% Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 OMIM Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 OMIM POMGNT2 NM_032806.5 100% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 OMIM

POMK NM_032237.4 100% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 OMIM

POMT1 NM_007171.3 99% Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 OMIM Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 OMIM POMT2 NM_013382.5 99% Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 OMIM Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 OMIM Gen Transkript >10x Fenotype PTEN NM_000314.5 100% Lhermitte-Duclos syndrome OMIM VATER association with macrocephaly and ventriculomegaly OMIM Cowden syndrome 1 OMIM Bannayan-Riley-Ruvalcaba syndrome OMIM Macrocephaly/autism syndrome OMIM PTF1A NM_178161.2 100% Pancreatic and cerebellar agenesis OMIM

QARS NM_005051.2 100% Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy OMIM

RAB18 NM_021252.4 100% Warburg micro syndrome 3 OMIM

RAB3GAP1 NM_012233.2 100% Warburg micro syndrome 1 OMIM

RAB3GAP2 NM_012414.3 100% Martsolf syndrome OMIM Warburg micro syndrome 2 OMIM

RARS2 NM_020320.3 100% Pontocerebellar hypoplasia, type 6 OMIM

RBBP8 NM_002894.2 100% Jawad syndrome OMIM Seckel syndrome 2 OMIM

RBM10 NM_005676.4 99% TARP syndrome OMIM

RELN NM_005045.3 100% Lissencephaly 2 (Norman-Roberts type) OMIM

RTEL1 NM_032957.4 99% Dyskeratosis congenita, autosomal recessive 5 OMIM Dyskeratosis congenita, autosomal dominant 4 OMIM

RTTN NM_173630.3 99% Microcephaly, short stature, and polymicrogyria with seizures OMIM

SEPSECS NM_016955.3 100% Pontocerebellar hypoplasia type 2D OMIM

SLC25A19 NM_021734.4 99% Microcephaly, Amish type OMIM

SNAP29 NM_004782.3 100% Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome OMIM

SRD5A3 NM_024592.4 100% Congenital disorder of glycosylation, type Iq OMIM

STAMBP NM_006463.4 100% Microcephaly-capillary malformation syndrome OMIM

STIL NM_003035.2 100% Microcephaly 7, primary, autosomal recessive OMIM Gen Transkript >10x Fenotype STRADA NM_153335.5 100% Polyhydramnios, megalencephaly, and symptomatic epilepsy OMIM

TBC1D20 NM_144628.3 97% Warburg micro syndrome 4 OMIM

TBC1D7 NM_001143965.3 100% Macrocephaly/megalencephaly syndrome, autosomal recessive OMIM

TMEM5 NM_014254.2 100% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 OMIM

TRAIP NM_005879.2 100% Seckel syndrome 9 OMIM

TSC1 NM_000368.4 99% Tuberous sclerosis-1 OMIM

TSC2 NM_000548.3 100% Tuberous sclerosis-2 OMIM

TSEN2 NM_025265.3 100% Pontocerebellar hypoplasia type 2B OMIM

TSEN54 NM_207346.2 99% Pontocerebellar hypoplasia type 4 OMIM Pontocerebellar hypoplasia type 2A OMIM ?Pontocerebellar hypoplasia type 5 OMIM TUBA1A NM_006009.3 97% Lissencephaly 3 OMIM

TUBA8 NM_018943.2 100% Polymicrogyria with optic nerve hypoplasia OMIM

TUBB NM_178014.3 99% Symmetric circumferential skin creases, congenital, 1 OMIM Cortical dysplasia, complex, with other brain malformations 6 OMIM

TUBB4A NM_006087.3 100% Leukodystrophy, hypomyelinating, 6 OMIM

TUBG1 NM_001070.4 100% Cortical dysplasia, complex, with other brain malformations 4 OMIM

TUBGCP4 NM_014444.3 99% Microcephaly and chorioretinopathy, autosomal recessive, 3 OMIM

TUBGCP6 NM_020461.3 100% Microcephaly and chorioretinopathy, autosomal recessive, 1 OMIM

VLDLR NM_003383.3 100% Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 OMIM

VPS13B NM_017890.4 100% Cohen syndrome OMIM Gen Transkript >10x Fenotype VPS53 NM_001128159.2 100% Pontocerebellar hypoplasia, type 2E OMIM

VRK1 NM_003384.2 100% Pontocerebellar hypoplasia type 1A OMIM

WDR62 NM_001083961.1 99% Microcephaly 2, primary, autosomal recessive, with or without cortical malformations OMIM