NeuroMeGen (Hospital Clinico Universitario de Santiago de Compostela), NeuroMeGen

General information

NeuroMeGen, NeuroMeGen
Hospital Clinico Universitario de Santiago de Compostela
Choupana S/N
Santiago de Compostela
Spain - 15706
http://neuromegen.com/
Organization ID: 505605

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 150

Gene

GeneSubmissionsLast Updated
ACTA12Oct 8, 2018
ANO53Oct 8, 2018
ARHGEF151Mar 7, 2018
ARHGEF91Mar 7, 2018
ARX1Mar 7, 2018
CAPN32Oct 8, 2018
CDKL56Mar 7, 2018
CLCN41Mar 7, 2018
COL6A12Oct 8, 2018
COL6A24Oct 8, 2018
COL6A31Oct 8, 2018
CPT21Oct 8, 2018
DCX1Mar 7, 2018
DEPDC51Mar 7, 2018
DHTKD11Oct 8, 2018
DNM11Mar 7, 2018
DNM1L1Jul 4, 2016
DNM21Oct 8, 2018
DST2Oct 8, 2018
DYSF1Oct 8, 2018
EMD1Oct 8, 2018
FOXG14Mar 7, 2018
GABRB11Apr 10, 2017
GABRG21Mar 7, 2018
GGT21Mar 7, 2018
GJB11Oct 8, 2018
GNAO11Mar 7, 2018
GPHN3Mar 7, 2018
GRIN2A2Mar 7, 2018
HCN11Mar 7, 2018
HNRNPU1Mar 7, 2018
IGHMBP22Oct 8, 2018
KBTBD132Oct 8, 2018
KCNA21Mar 7, 2018
KCND31Nov 15, 2018
KCNQ219Mar 7, 2018
KCNQ31Mar 7, 2018
KIF111Mar 7, 2018
KNL12Mar 7, 2018
LAMA22Oct 8, 2018
LOC1027240584Mar 7, 2018
LOC1139606111Mar 7, 2018
MECP23Mar 7, 2018
MME2Oct 8, 2018
MVP1Mar 7, 2018
MYH22Oct 8, 2018
MYHAS2Oct 8, 2018
PAFAH1B12Mar 7, 2018
PIK3R21Jul 4, 2016
PRRT22Mar 7, 2018
RBFOX12Mar 7, 2018
RFPL21Mar 7, 2018
RHOBTB21Mar 7, 2018
RYR13Oct 8, 2018
SCN1A11Mar 7, 2018
SCN2A5Mar 7, 2018
SCN8A1Mar 7, 2018
SCN9A1Mar 7, 2018
SH3TC23Oct 8, 2018
SHH1Mar 7, 2018
SIGMAR12Mar 23, 2017
SLC12A51Mar 7, 2018
SNAP291Mar 7, 2018
SPTAN11Mar 7, 2018
SRGAP22Mar 7, 2018
STXBP11Mar 7, 2018
SYN12Mar 7, 2018
SYNGAP11Mar 7, 2018
TBC1D241Mar 7, 2018
TPM21Oct 8, 2018
TRAPPC112Oct 8, 2018
TSEN22Mar 7, 2018
TSEN542Mar 7, 2018
TTN7Oct 8, 2018
TTN-AS13Oct 8, 2018
TUBB2A1Mar 7, 2018
TUBB2B1Mar 7, 2018
TUBGCP61Mar 7, 2018
YARS21Jul 4, 2016

Condition

NameSubmissionsLast Updated
Amyotrophic lateral sclerosis 16, juvenile2Mar 23, 2017
Autosomal recessive limb-girdle muscular dystrophy type 2B1Oct 8, 2018
Benign familial neonatal seizures 14Nov 25, 2015
Benign familial neonatal seizures 21Mar 7, 2018
Bethlem myopathy 13Oct 8, 2018
CAP-congenital myopathy with arthrogryposis multiplex congenita without heart involvement1May 13, 2016
CEDNIK syndrome1Mar 7, 2018
Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced1Oct 8, 2018
Central core myopathy3Oct 8, 2018
Charcot-Marie-Tooth Neuropathy X Type 11Oct 8, 2018
Charcot-Marie-Tooth disease, axonal, type 2Q1Oct 8, 2018
Charcot-Marie-Tooth disease, axonal, type 2T2Oct 8, 2018
Charcot-Marie-Tooth disease, type 4C3Oct 8, 2018
Cortical dysplasia, complex, with other brain malformations 51Mar 7, 2018
Dystonia, intellectual disability and language impairment1Nov 14, 2016
Early infantile epileptic encephalopathy 112Mar 7, 2018
Early infantile epileptic encephalopathy 131Mar 7, 2018
Early infantile epileptic encephalopathy 161Mar 7, 2018
Early infantile epileptic encephalopathy 171Mar 7, 2018
Early infantile epileptic encephalopathy 26Mar 7, 2018
Early infantile epileptic encephalopathy 341Mar 7, 2018
Early infantile epileptic encephalopathy 41Mar 7, 2018
Early infantile epileptic encephalopathy 51Mar 7, 2018
Early infantile epileptic encephalopathy 715Mar 7, 2018
Early infantile epileptic encephalopathy 81Mar 7, 2018
Early infantile epileptic encephalopathy with suppression bursts1Mar 7, 2018
Emery-Dreifuss muscular dystrophy 1, X-linked1Oct 8, 2018
Encephalopathy due to defective mitochondrial and peroxisomal fission 11Jul 4, 2016
Epilepsy, X-linked, with variable learning disabilities and behavior disorders2Mar 7, 2018
Epilepsy, familial focal, with variable foci 11Mar 7, 2018
Epilepsy, focal, with speech disorder and with or without mental retardation1Mar 7, 2018
Epileptic encephalopathy, early infantile, 11Mar 7, 2018
Epileptic encephalopathy, early infantile, 241Mar 7, 2018
Epileptic encephalopathy, early infantile, 311Mar 7, 2018
Epileptic encephalopathy, early infantile, 321Mar 7, 2018
Epileptic encephalopathy, early infantile, 451Apr 10, 2017
Epileptic encephalopathy, early infantile, 541Mar 7, 2018
Familial febrile seizures 81Mar 7, 2018
Holoprosencephaly 31Mar 7, 2018
Infantile convulsions and choreoathetosis1Mar 7, 2018
Limb-girdle muscular dystrophy, type 2A2Oct 8, 2018
Limb-girdle muscular dystrophy, type 2J4Oct 8, 2018
Limb-girdle muscular dystrophy, type 2L3Oct 8, 2018
Limb-girdle muscular dystrophy, type 2S2Oct 8, 2018
Lissencephaly due to LIS1 mutation2Mar 7, 2018
Lissencephaly, X-linked1Mar 7, 2018
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 11Jul 4, 2016
Mental retardation 49, X-linked1Mar 7, 2018
Mental retardation, autosomal dominant 51Mar 7, 2018
Merosin deficient congenital muscular dystrophy2Oct 8, 2018
Microcephaly and chorioretinopathy, autosomal recessive, 11Mar 7, 2018
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation1Mar 7, 2018
Molybdenum cofactor deficiency, complementation group C3Mar 7, 2018
Myopathy, centronuclear, 11Oct 8, 2018
Myopathy, myofibrillar, 9, with early respiratory failure2Oct 8, 2018
Myopathy, proximal, and ophthalmoplegia2Oct 8, 2018
Myosclerosis, autosomal recessive2Oct 8, 2018
Nemaline myopathy 32Oct 8, 2018
Nemaline myopathy 41Oct 8, 2018
Nemaline myopathy 62Oct 8, 2018
Neuropathy, hereditary sensory and autonomic, type VI2Oct 8, 2018
Polymicrogyria, asymmetric1Mar 7, 2018
Pontocerebellar hypoplasia type 2A2Mar 7, 2018
Pontocerebellar hypoplasia type 2B2Mar 7, 2018
Primary autosomal recessive microcephaly 42Mar 7, 2018
Rett syndrome3Mar 7, 2018
Rett syndrome, congenital variant4Mar 7, 2018
Seizures, benign familial infantile, 21Mar 7, 2018
Seizures, benign familial infantile, 33Mar 7, 2018
Severe myoclonic epilepsy in infancy12Mar 7, 2018
Severe neonatal-onset encephalopathy with microcephaly1Mar 7, 2018
Spinal muscular atrophy, distal, autosomal recessive, 12Oct 8, 2018
Spinocerebellar ataxia type 19/221Nov 15, 2018
Ullrich congenital muscular dystrophy 12Oct 8, 2018
Undetermined early-onset epileptic encephalopathy4Mar 7, 2018
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