Génétique des Maladies du Développement (Hospices Civils de Lyon), HCL

General information

Génétique des Maladies du Développement, HCL
Hospices Civils de Lyon
CBPE, 59 Boulevard Pinel
Bron CEDEX
France - 69677

Organization ID: 506599

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 441

Gene

GeneSubmissionsLast Updated
ACTB2Jun 15, 2020
ADARB11Sep 1, 2020
ADNP3Oct 17, 2018
AIFM11Feb 25, 2020
ALDH4A11May 24, 2019
ALDH7A11May 13, 2020
ALG132Oct 29, 2020
ANKRD112Jul 20, 2020
ARHGEF93May 24, 2019
ARID1B4Mar 9, 2020
ARMCX5-GPRASP22Oct 17, 2018
ASXL31Oct 17, 2018
ATP1A22Jul 26, 2018
ATP1A37Oct 7, 2020
ATP8A21Mar 25, 2020
BCL11A1Mar 9, 2020
BCL11B1Dec 16, 2020
BRPF11Oct 17, 2018
C1orf1052Jun 3, 2020
CACNA1A2May 24, 2019
CAMK2A1Mar 9, 2020
CASK2May 24, 2019
CDK132Mar 9, 2020
CDKL511Jan 5, 2021
CHD28Aug 7, 2020
CHD41Oct 17, 2018
CHD71Oct 17, 2018
CHRNA21May 24, 2019
CLCN41Dec 16, 2020
CNKSR22Oct 17, 2018
COL3A11Jul 21, 2020
CREBBP1Oct 17, 2018
CSTB1Sep 1, 2020
CUX21Oct 17, 2018
CYFIP22May 14, 2020
DCX1Oct 17, 2018
DDX3X1Mar 9, 2020
DEPDC56Oct 2, 2020
DMD1Oct 17, 2018
DNMT3A2Oct 17, 2018
DSP1Mar 9, 2020
DYRK1A3Jul 20, 2020
EEF1A22May 24, 2019
EFTUD21Mar 9, 2020
EHMT14Oct 17, 2018
EMC12Oct 7, 2019
EMC1-AS12Oct 7, 2019
FARS21May 24, 2019
FBXO112Jun 12, 2020
FGF121May 24, 2019
FLNA1Oct 17, 2018
FOXG12Jun 11, 2020
FOXP12Oct 17, 2018
FOXP21Oct 17, 2018
GABBR21Sep 24, 2020
GABRA13Apr 22, 2020
GABRB32May 24, 2019
GABRG21Feb 28, 2020
GATAD2B2Oct 30, 2020
GH-LCR1Feb 25, 2020
GNAO14Mar 16, 2020
GNB11Mar 9, 2020
GNB51Mar 9, 2020
GPRASP12Oct 17, 2018
GRIA31Mar 9, 2020
GRIN13Jun 10, 2020
GRIN2A16Jun 10, 2020
GRIN2B6Sep 30, 2020
GRIN2D1May 24, 2019
GRM12Mar 9, 2020
GRM61Oct 5, 2020
GRM71Apr 22, 2020
HDAC82Oct 22, 2020
HEXA1Mar 9, 2020
HIVEP21Oct 17, 2018
HNRNPU2Jun 26, 2020
HUWE11Mar 9, 2020
IL1RAPL12Oct 17, 2018
IQSEC23Oct 17, 2018
KANSL13Mar 9, 2020
KAT6A1Oct 17, 2018
KAT6B1Oct 17, 2018
KCNA21May 24, 2019
KCNB12Oct 17, 2018
KCNC11May 24, 2019
KCND31Feb 28, 2020
KCNMA11Oct 7, 2020
KCNQ221Aug 7, 2020
KCNQ31May 24, 2019
KCNQ51Mar 9, 2020
KCNT111Sep 29, 2020
KDM5C3Oct 17, 2018
KDM6A2Dec 16, 2020
KLHL201Mar 30, 2020
KMT2A1Oct 17, 2018
KMT2B1Mar 9, 2020
KMT2D5Oct 17, 2018
LOC1001307981Oct 5, 2020
LOC1027240589Oct 29, 2020
LOC1079880321Oct 17, 2018
LRIG21Mar 9, 2020
MBD51May 24, 2019
MEA12Mar 9, 2020
MECP27Jun 5, 2020
MED123Oct 17, 2018
MED13L3Mar 9, 2020
MEF2C1Oct 17, 2018
MID11Oct 30, 2020
MORC21Mar 9, 2020
MTO11Mar 9, 2020
NCKAP12Mar 25, 2020
NEDD4L1May 24, 2019
NEXMIF2Jun 12, 2020
NFIX1Oct 17, 2018
NHLRC11May 24, 2019
NR2F12Mar 4, 2020
NSD12Oct 17, 2018
PACS12Mar 9, 2020
PC1Mar 9, 2020
PCDH199Oct 19, 2020
PCGF21Mar 9, 2020
PDHA11Oct 17, 2018
PHF21A1Oct 17, 2018
PHIP1Oct 5, 2020
PIGA1May 24, 2019
PIGC2Jun 3, 2020
PITX12Jun 20, 2020
PLAA1Mar 19, 2020
PNPO1May 24, 2019
POGZ2Oct 17, 2018
PORCN1Mar 9, 2020
PPP2R5D2Mar 9, 2020
PPP3CA1Feb 25, 2020
PQBP11Oct 17, 2018
PRRT27Sep 14, 2020
PTCHD11Oct 17, 2018
RAB33A1Feb 25, 2020
RAB3GAP21Oct 5, 2020
RAC11Mar 9, 2020
RAPSN1Mar 9, 2020
RORB1Oct 19, 2020
RPS6KA32Oct 17, 2018
RS11Oct 17, 2018
SATB22Oct 17, 2018
SCN1A23Dec 16, 2020
SCN1B3May 24, 2019
SCN2A18Oct 29, 2020
SCN4A1Feb 25, 2020
SCN8A6Jan 5, 2021
SEMA5A1Oct 17, 2018
SETBP11Oct 17, 2018
SETD1B1Nov 2, 2020
SETD53Oct 17, 2018
SHANK21Oct 17, 2018
SHANK33Jan 5, 2021
SIK11Jan 27, 2020
SLC1A11Oct 17, 2018
SLC2A14Apr 22, 2020
SLC35A21May 24, 2019
SLC6A15Oct 20, 2020
SLC7A6OS1Jul 20, 2020
SLC9A61May 24, 2019
SLITRK61Mar 9, 2020
SMARCA42Oct 17, 2018
SMC1A1Oct 17, 2018
SMC31Oct 17, 2018
SMS1Oct 17, 2018
SNHG143May 24, 2019
SON2Dec 6, 2020
SOX111Oct 17, 2018
SOX51Oct 17, 2018
SOX61Jul 20, 2020
SPATA6L1Oct 17, 2018
SPTAN12Dec 6, 2020
STAG11Mar 9, 2020
STAMBP1May 24, 2019
STX1B1May 24, 2019
STXBP16Feb 13, 2020
SYN11Jul 8, 2020
SYNGAP115Dec 3, 2020
TCF202Nov 19, 2018
TCF42Mar 9, 2020
TRIO2Oct 17, 2018
TRIP122Oct 17, 2018
TRPM31Sep 30, 2020
TRRAP1Mar 9, 2020
TUBA1A2Oct 17, 2018
UBE3A3May 24, 2019
UPF11Jun 30, 2020
USH2A1Oct 5, 2020
USP9X1Oct 17, 2018
WAC1Jun 15, 2020
WDR455Mar 9, 2020
WWOX1May 24, 2019
ZBTB181Jul 20, 2020
ZDHHC91Oct 17, 2018
ZMYND111Mar 9, 2020

Condition

NameSubmissionsLast Updated
22q13.3 deletion syndrome2Jul 20, 2020
Abnormal CNS myelination1Sep 1, 2020
Acute myeloid leukemia4Oct 17, 2018
Alternating hemiplegia of childhood 27Oct 7, 2020
Angelman syndrome3May 24, 2019
Atrial fibrillation, familial, 131Oct 17, 2018
Autism 171Oct 17, 2018
Autism, susceptibility to, X-linked 41Oct 17, 2018
Autistic behavior3Jan 5, 2021
Autosomal dominant nocturnal frontal lobe epilepsy1May 13, 2020
Bainbridge-Ropers syndrome1Oct 17, 2018
Baraitser-Winter syndrome 12Jun 15, 2020
Becker muscular dystrophy1Oct 17, 2018
Benign familial neonatal seizures 110Jul 20, 2020
Benign familial neonatal seizures 21May 24, 2019
Bilateral multifocal epileptiform discharges1Apr 22, 2020
Bosch-Boonstra-Schaaf optic atrophy syndrome2Mar 4, 2020
Brugada syndrome 51Oct 17, 2018
CHARGE association1Oct 17, 2018
Cardiac valvular dysplasia, X-linked1Oct 17, 2018
Cataract-intellectual disability-hypogonadism syndrome1Oct 5, 2020
Cerebellar atrophy2Oct 7, 2019
Cerebellar atrophy, developmental delay, and seizures1Oct 7, 2020
Cerebral dysmyelination1Sep 1, 2020
Christianson syndrome1May 24, 2019
Chromosome 2q32-q33 deletion syndrome2Oct 17, 2018
Clark-Baraitser syndrome2Oct 17, 2018
Coffin-Lowry syndrome2Oct 17, 2018
Coffin-Siris syndrome 13Oct 17, 2018
Cognitive impairment with or without cerebellar ataxia1Oct 17, 2018
Combined oxidative phosphorylation deficiency 141May 24, 2019
Complex febrile seizures1Mar 17, 2020
Congenital muscular hypertrophy-cerebral syndrome1Oct 17, 2018
Congenital stationary night blindness, type 1B1Oct 5, 2020
Corneal dystrophy, Fuchs endothelial, 31Oct 17, 2018
Cornelia de Lange syndrome 31Oct 17, 2018
Cornelia de Lange syndrome 52Oct 22, 2020
Dandy-Walker syndrome1Oct 30, 2020
Deafness, autosomal recessive 281Oct 17, 2018
Deficiency of pyrroline-5-carboxylate reductase1May 24, 2019
Desanto-shinawi syndrome1Jun 15, 2020
Developmental and epileptic encephalopathy, 671Oct 17, 2018
Developmental delay, intellectual disability, obesity, and dysmorphic features1Oct 5, 2020
Developmental malformations-deafness-dystonia syndrome1Oct 17, 2018
Dicarboxylic aminoaciduria1Oct 17, 2018
Dilated cardiomyopathy 3B1Oct 17, 2018
Duchenne muscular dystrophy1Oct 17, 2018
Dysequilibrium syndrome1Mar 25, 2020
Dystonia 91Oct 17, 2018
Early infantile epileptic encephalopathy 1111Oct 20, 2020
Early infantile epileptic encephalopathy 135May 24, 2019
Early infantile epileptic encephalopathy 148Sep 29, 2020
Early infantile epileptic encephalopathy 173May 24, 2019
Early infantile epileptic encephalopathy 28Apr 29, 2020
Early infantile epileptic encephalopathy 47Feb 13, 2020
Early infantile epileptic encephalopathy 52Dec 6, 2020
Early infantile epileptic encephalopathy 591Sep 24, 2020
Early infantile epileptic encephalopathy 78Jul 21, 2020
Early infantile epileptic encephalopathy 83May 24, 2019
Early infantile epileptic encephalopathy 97Oct 19, 2020
Ehlers-Danlos syndrome, type 41Jul 21, 2020
Encephalopathy2Sep 1, 2020
Epilepsy, familial focal, with variable foci 14Sep 15, 2020
Epilepsy, focal, with speech disorder and with or without mental retardation15Jun 10, 2020
Epilepsy, idiopathic generalized, susceptibility to, 121Oct 17, 2018
Epilepsy, idiopathic generalized, susceptibility to, 151Oct 19, 2020
Epilepsy, juvenile myoclonic 51Oct 17, 2018
Epilepsy, nocturnal frontal lobe, 53May 24, 2019
Epilepsy, nocturnal frontal lobe, type 41May 24, 2019
Epilepsy, progressive myoclonic 71May 24, 2019
Epileptic encephalopathy2Mar 16, 2020
Epileptic encephalopathy, childhood-onset7Nov 20, 2019
Epileptic encephalopathy, early infantile, 193Apr 22, 2020
Epileptic encephalopathy, early infantile, 262Oct 17, 2018
Epileptic encephalopathy, early infantile, 274Jun 10, 2020
Epileptic encephalopathy, early infantile, 281May 24, 2019
Epileptic encephalopathy, early infantile, 321May 24, 2019
Epileptic encephalopathy, early infantile, 332May 24, 2019
Epileptic encephalopathy, early infantile, 361May 24, 2019
Epileptic encephalopathy, early infantile, 422May 24, 2019
Epileptic encephalopathy, early infantile, 432May 24, 2019
Epileptic encephalopathy, early infantile, 461May 24, 2019
Epileptic encephalopathy, early infantile, 471May 24, 2019
Epileptic encephalopathy, early infantile, 521Oct 17, 2018
Epileptic encephalopathy, early infantile, 541Oct 17, 2018
Episodic kinesigenic dyskinesia 12May 24, 2019
FG syndrome 12Oct 17, 2018
FG syndrome 21Oct 17, 2018
FG syndrome 41Oct 17, 2018
Familial temporal lobe epilepsy 11May 24, 2019
Focal seizures1Feb 25, 2020
Frontometaphyseal dysplasia 11Oct 17, 2018
GLUT1 deficiency syndrome 11Oct 17, 2018
GLUT1 deficiency syndrome 24Apr 22, 2020
Generalized epilepsy with febrile seizures plus, type 13May 24, 2019
Generalized epilepsy with febrile seizures plus, type 210Dec 16, 2020
Generalized epilepsy with febrile seizures plus, type 91May 24, 2019
Generalized myoclonic seizures1Jul 20, 2020
Global developmental delay43Apr 22, 2020
Glycosylphosphatidylinositol biosynthesis defect 161Jun 3, 2020
Helsmoortel-Van der Aa Syndrome3Oct 17, 2018
Hurler syndrome1Jun 20, 2020
Hypogonadotropic hypogonadism 5 with or without anosmia1Oct 17, 2018
Infantile convulsions and choreoathetosis1Apr 27, 2020
Infantile spasms1Mar 16, 2020
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities2Jun 12, 2020
Intellectual developmental disorder with dysmorphic facies and ptosis1Oct 17, 2018
Intellectual developmental disorder with seizures and language delay1Nov 2, 2020
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities1Dec 16, 2020
Intellectual disability19Oct 30, 2020
Intellectual disability, X-linked 212Oct 17, 2018
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked1Oct 17, 2018
KBG syndrome2Oct 17, 2018
Kabuki syndrome 14Oct 17, 2018
Kabuki syndrome 22Dec 16, 2020
Kleefstra syndrome 14Oct 17, 2018
Koolen-de Vries syndrome2Oct 17, 2018
Lafora disease1May 24, 2019
Lamb-shaffer syndrome1Oct 17, 2018
Lissencephaly 32Oct 17, 2018
Lissencephaly, X-linked1Oct 17, 2018
Marshall-Smith syndrome1Oct 17, 2018
Melnick-Needles syndrome1Oct 17, 2018
Mental retardation 49, X-linked1Dec 16, 2020
Mental retardation and distinctive facial features with or without cardiac defects2Oct 17, 2018
Mental retardation and microcephaly with pontine and cerebellar hypoplasia2May 24, 2019
Mental retardation with language impairment and with or without autistic features2Oct 17, 2018
Mental retardation, X-linked 13Oct 17, 2018
Mental retardation, X-linked 192Oct 17, 2018
Mental retardation, X-linked 982Jun 12, 2020
Mental retardation, X-linked 991Oct 17, 2018
Mental retardation, X-linked 99, syndromic, female-restricted1Oct 17, 2018
Mental retardation, X-linked, syndromic 131Oct 17, 2018
Mental retardation, X-linked, syndromic, Raymond type1Oct 17, 2018
Mental retardation, autosomal dominant 11May 24, 2019
Mental retardation, autosomal dominant 162Oct 17, 2018
Mental retardation, autosomal dominant 181Oct 17, 2018
Mental retardation, autosomal dominant 233Oct 17, 2018
Mental retardation, autosomal dominant 261Oct 17, 2018
Mental retardation, autosomal dominant 271Oct 17, 2018
Mental retardation, autosomal dominant 291Oct 17, 2018
Mental retardation, autosomal dominant 321Oct 17, 2018
Mental retardation, autosomal dominant 351Oct 17, 2018
Mental retardation, autosomal dominant 381Oct 17, 2018
Mental retardation, autosomal dominant 431Oct 17, 2018
Mental retardation, autosomal dominant 441Oct 17, 2018
Mental retardation, autosomal dominant 514Dec 3, 2020
Mental retardation, autosomal dominant 61Oct 17, 2018
Mental retardation, autosomal dominant 71Oct 17, 2018
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations1Oct 17, 2018
Mental retardation, syndromic, Claes-Jensen type, X-linked3Oct 17, 2018
Microcephaly3Sep 1, 2020
Microcephaly-capillary malformation syndrome1May 24, 2019
Micrognathia1Jun 16, 2020
Multiple congenital anomalies-hypotonia-seizures syndrome 21May 24, 2019
Myoclonic absences1Jun 26, 2020
Myoclonic-atonic epilepsy5Oct 20, 2020
Neurodegeneration with brain iron accumulation 53May 24, 2019
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant3Jun 10, 2020
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive1Oct 17, 2018
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies1Mar 19, 2020
Nicolaides-Baraitser syndrome1Oct 17, 2018
Ohdo syndrome, X-linked2Oct 17, 2018
Oto-palato-digital syndrome, type I1Oct 17, 2018
Oto-palato-digital syndrome, type II1Oct 17, 2018
Paroxysmal dystonia1Sep 30, 2020
Periventricular nodular heterotopia 11Oct 17, 2018
Periventricular nodular heterotopia 71May 24, 2019
Pitt-Hopkins syndrome1Oct 17, 2018
Polymicrogyria2Jul 26, 2018
Pyridoxal phosphate-responsive seizures1May 24, 2019
Pyruvate dehydrogenase E1-alpha deficiency1Oct 17, 2018
Renpenning syndrome 11Oct 17, 2018
Rett syndrome6Jun 5, 2020
Rett syndrome, congenital variant2Jun 11, 2020
Rhabdoid tumor predisposition syndrome 22Oct 17, 2018
Rubinstein-Taybi syndrome 11Oct 17, 2018
SLC35A2-CDG1May 24, 2019
Schinzel-Giedion syndrome1Oct 17, 2018
Schizophrenia 151Oct 17, 2018
Schizophrenia 181Oct 17, 2018
Schuurs-hoeijmakers syndrome1Oct 17, 2018
Seizures24Jan 5, 2021
Seizures, benign familial infantile, 23May 24, 2019
Seizures, benign familial infantile, 37May 24, 2019
Seizures, benign familial infantile, 52Jan 5, 2021
Severe myoclonic epilepsy in infancy9Oct 9, 2020
Severe neonatal-onset encephalopathy with microcephaly2May 24, 2019
Sifrim-Hitz-Weiss syndrome1Oct 17, 2018
Simpson-Golabi-Behmel syndrome type 11Oct 17, 2018
Smith-Magenis syndrome1Oct 17, 2018
Sotos syndrome 12Oct 17, 2018
Sotos syndrome 21Oct 17, 2018
Speech-language disorder 11Oct 17, 2018
Spinocerebellar ataxia, autosomal recessive 131Apr 23, 2019
Stomatin-deficient cryohydrocytosis with neurologic defects1Oct 17, 2018
Syndromic X-linked intellectual disability Lubs type1Oct 17, 2018
Tatton-Brown-rahman syndrome2Oct 17, 2018
Terminal osseous dysplasia1Oct 17, 2018
Transposition of the great arteries, dextro-looped 12Oct 17, 2018
Usher syndrome, type 2A1Oct 5, 2020
White-sutton syndrome2Oct 17, 2018
Wiedemann-Steiner syndrome1Oct 17, 2018
Wilms tumor 11Oct 17, 2018
X-linked mental retardation with marfanoid habitus syndrome2Oct 17, 2018
ZTTK syndrome2Dec 6, 2020
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