Center of Genomic medicine, Geneva (University Hospital of Geneva), GenMed_GVA

General information

Center of Genomic medicine, Geneva, GenMed_GVA
University Hospital of Geneva
Rue Gabrielle Perret-Gentil 4
Geneva
Geneve
Switzerland - 1211
http://www.hug-ge.ch/centre-de-medecine-genetique-0
Organization ID: 505593

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 346

Gene

GeneSubmissionsLast Updated
ABCA41Jul 6, 2017
ABCC91Feb 14, 2017
ACVRL13Jul 5, 2019
ADGRV12Jul 5, 2019
ADNP1Mar 2, 2017
AGRN1Feb 14, 2017
ALDH1A31Jun 29, 2018
ALDH1A3-AS11Jun 29, 2018
ALPL1Feb 1, 2019
ANK21Jun 21, 2016
ANKRD112Jun 13, 2017
ANKRD261Jul 5, 2019
AP1S21Feb 14, 2017
APOE1Mar 18, 2016
ARFGEF1-DT1Jun 13, 2017
ARID1B1Feb 14, 2017
ASPM2Sep 13, 2016
ASXL12Jul 6, 2017
ASXL31Sep 13, 2016
ATM6Nov 15, 2017
ATRX1Dec 8, 2016
BAP11Nov 15, 2017
BRF11Jun 13, 2017
C11orf655Nov 15, 2017
CACNA1A5Jun 13, 2017
CAMTA11Jun 21, 2016
CASD11Dec 8, 2016
CASK1Jun 13, 2017
CCNF1Feb 1, 2019
CCNH1Mar 20, 2018
CDH232Sep 13, 2016
CDK131Jun 29, 2018
CDKL53Mar 20, 2018
CDKN2A1Feb 1, 2019
CEP1351Jul 6, 2017
CFHR51May 3, 2016
CFTR2Feb 1, 2019
CFTR-AS11Feb 1, 2019
CHD72Mar 20, 2018
CHD81May 19, 2017
CHEK21Jul 6, 2017
CHRNA22Feb 1, 2019
CHRNB21Sep 13, 2016
CLCN51Jun 29, 2018
COL2A11Feb 1, 2019
COL4A11Feb 1, 2019
COL4A33Mar 2, 2017
COL4A41Feb 1, 2019
COL4A54Mar 20, 2018
COL5A11Mar 18, 2016
COL6A31Dec 8, 2016
COL9A31Sep 13, 2016
CPA61Jun 13, 2017
CREBBP2Jun 29, 2018
CTNNB11Jun 21, 2016
CTSD1Mar 18, 2016
CUBN2Jul 5, 2019
CUL4B2Feb 1, 2019
CYBB1Nov 15, 2017
CYP2U12Jul 6, 2017
CYP2U1-AS11Jul 6, 2017
DEPDC51Jul 5, 2019
DES1Feb 14, 2017
DHCR72Mar 2, 2017
DNAAF32Mar 20, 2018
DNAH51Mar 20, 2018
DSG21Jun 29, 2018
DSP1Jun 21, 2016
DUSP291Jun 21, 2016
DYNC2H12May 19, 2017
DYRK1A3Mar 20, 2018
ECHS12Feb 14, 2017
ELN1Jan 12, 2021
ENG2Jul 6, 2017
EP3001Mar 2, 2017
EXT11Nov 15, 2017
EYA11Jun 21, 2016
FAN12May 19, 2017
FBN15Jul 5, 2019
FGA1Mar 20, 2018
FGFR12Jun 29, 2018
FLNB1Mar 20, 2018
FOXP11Jul 6, 2017
GABRA11Mar 2, 2017
GAMT2Jul 5, 2019
GBE12May 19, 2017
GFI1B1Jun 29, 2018
GJB11Jul 5, 2019
GLDN1Jun 29, 2018
GLI32Sep 13, 2016
GLUD11May 3, 2016
GP1BA1Mar 20, 2018
GRIN11Mar 2, 2017
GRIN2A2Jun 29, 2018
GRIN2B1Dec 8, 2016
GRN2Jun 13, 2017
HTRA11Feb 14, 2017
ILDR11Jul 5, 2019
IQSEC22Dec 8, 2016
JAG11Mar 20, 2018
JUP1May 19, 2017
KARS11Mar 20, 2018
KAT6B1Jun 21, 2016
KCNH22Jul 5, 2019
KCNJ112Jun 21, 2016
KCNQ24Jul 6, 2017
KDM5C1Dec 8, 2016
KDM6A1Dec 8, 2016
KIRREL31Mar 18, 2016
KLHL412Jul 5, 2019
KMT2A1Jun 21, 2016
KMT2D4Jul 6, 2017
L1CAM1May 3, 2016
LAMB31Nov 15, 2017
LARGE11Nov 15, 2017
LARS22Jul 5, 2019
LARS2-AS11Jul 5, 2019
LDB31Feb 1, 2019
LIG42Dec 8, 2016
LMNA1Feb 1, 2019
LOC1027235661Jul 6, 2017
LOC1027240582Nov 15, 2017
LOC1060293121Sep 13, 2016
LOC1101215021Mar 20, 2018
LOC1116744721Feb 1, 2019
LOXHD11Mar 20, 2018
LRSAM11Jun 21, 2016
MCS+9.71Mar 20, 2018
MECP21Mar 2, 2017
MED13L1Jul 6, 2017
MEN11Jun 29, 2018
MFF-DT3Mar 2, 2017
MFN21May 19, 2017
MTMR101May 19, 2017
MYBPC314Feb 1, 2019
MYH61Mar 2, 2017
MYH72Jul 5, 2019
MYL21Mar 20, 2018
MYL31Jun 29, 2018
MYO61Mar 2, 2017
MYO7A1Mar 2, 2017
MYO9A1Jun 29, 2018
MYPN2Jul 5, 2019
NCF11Sep 13, 2016
NEXMIF2Nov 15, 2017
NF111Jun 29, 2018
NIPBL2Feb 1, 2019
NKX2-11Nov 15, 2017
NLRP31Dec 8, 2016
NR3C21Jun 13, 2017
OPA11Nov 15, 2017
PAFAH1B11Feb 14, 2017
PAX61Feb 1, 2019
PCNT1Jun 13, 2017
PDHA11Jul 6, 2017
PEX62Jul 5, 2019
PGK11Feb 14, 2017
PHEX2Jun 29, 2018
PIGA1Dec 8, 2016
PIK3CD1Jun 13, 2017
PKD21Mar 2, 2017
PKHD12Feb 1, 2019
PLP11Mar 2, 2017
PTCH11Feb 1, 2019
PTCHD1-AS1May 3, 2016
PTPN118Feb 1, 2019
RAB9B1Mar 2, 2017
RASA11Mar 20, 2018
RET2Jul 5, 2019
RPGRIP12Jun 29, 2018
RYR13Feb 1, 2019
RYR21Dec 8, 2016
SACS1Mar 2, 2017
SCN1A3Jul 5, 2019
SCN1A-AS11Jun 13, 2017
SCN2A2Jul 5, 2019
SCN4B1Feb 14, 2017
SCN8A1Mar 20, 2018
SCN9A1Jun 13, 2017
SEMA3D1Mar 20, 2018
SERPINI12May 19, 2017
SETBP11Mar 18, 2016
SFTA31Nov 15, 2017
SGCE1Dec 8, 2016
SHANK21Dec 8, 2016
SHANK31Dec 8, 2016
SIX11Jul 5, 2019
SKI1Nov 15, 2017
SLC12A33Feb 1, 2019
SLC2A13Feb 1, 2019
SLC7A91Jun 21, 2016
SMARCB11Jul 5, 2019
SMC1A2Jun 13, 2017
SMC32Jul 5, 2019
SOD11Jul 5, 2019
SOS11Jul 6, 2017
SPAST2Feb 14, 2017
SPATA51Jun 29, 2018
SPG72Nov 15, 2017
SPTBN21May 3, 2016
ST3GAL41Mar 18, 2016
STAT31Nov 15, 2017
STRC1Feb 1, 2019
STXBP12Nov 15, 2017
SYNGAP12Jun 13, 2017
TBC1D242Feb 1, 2019
TCF43Jul 5, 2019
TJP22Mar 2, 2017
TMEM1271Mar 2, 2017
TMPRSS61Feb 1, 2019
TNFRSF13B1Jul 6, 2017
TNFRSF1A1Mar 20, 2018
TNNT23Jun 29, 2018
TPM11Jun 21, 2016
TPM21May 19, 2017
TPM31May 19, 2017
TSC11Feb 14, 2017
TSC24Jun 13, 2017
TTC191May 19, 2017
TTC21B2Jul 5, 2019
TTC21B-AS11Jul 5, 2019
TTN2Jun 13, 2017
TTN-AS11May 3, 2016
TYR3Jun 29, 2018
UMOD1Mar 2, 2017
USH2A2May 19, 2017
VCL3Jul 5, 2019
VCP2Jun 29, 2018
VPS13B2May 3, 2016
WASHC52Nov 15, 2017
WDR451Mar 20, 2018
WFS12May 19, 2017
WNT12Feb 1, 2019
ZBTB181Mar 2, 2017
ZBTB201Jun 29, 2018

Condition

NameSubmissionsLast Updated
AFib amyloidosis1Mar 20, 2018
Abnormal facial shape1Jun 29, 2018
Abnormality of lipid metabolism1Mar 18, 2016
Adult hypophosphatasia1Feb 1, 2019
Adult polyglucosan body disease2May 19, 2017
Alpha thalassemia-X-linked intellectual disability syndrome1Dec 8, 2016
Alport syndrome 1, X-linked recessive4Mar 20, 2018
Alport syndrome, autosomal recessive2Mar 2, 2017
Amyotrophic lateral sclerosis2Jul 5, 2019
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia1Feb 14, 2017
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps1Feb 1, 2019
Aniridia 11Feb 1, 2019
Arrhythmogenic right ventricular cardiomyopathy1Feb 14, 2017
Arteriohepatic dysplasia1Mar 20, 2018
Arthrogryposis multiplex congenita2Jul 6, 2017
Ataxia-telangiectasia syndrome5May 19, 2017
Autism, susceptibility to, 181May 19, 2017
Autistic behavior3Jun 29, 2018
Autosomal dominant nonsyndromic deafness 221Mar 2, 2017
Autosomal dominant optic atrophy classic form1Nov 15, 2017
Autosomal dominant pseudohypoaldosteronism type 11Jun 13, 2017
Autosomal recessive nonsyndromic deafness1Mar 20, 2018
Autosomal recessive polycystic kidney disease2Feb 1, 2019
Bainbridge-Ropers syndrome1Sep 13, 2016
Behavioral abnormality1Jun 21, 2016
Benign familial hematuria1Feb 1, 2019
Benign familial neonatal seizures 11May 3, 2016
Benign hereditary chorea1Nov 15, 2017
Bernard Soulier syndrome1Mar 20, 2018
Bilateral ptosis1Jun 21, 2016
Bilateral sensorineural hearing impairment1Sep 13, 2016
Blepharophimosis - intellectual disability syndrome, SBBYS type1Jun 21, 2016
Branchiootic syndrome 11Jul 5, 2019
CARASIL syndrome1Feb 14, 2017
CFHR5 deficiency1May 3, 2016
CHARGE association2Mar 20, 2018
Capillary malformation-arteriovenous malformation 11Mar 20, 2018
Cardiac arrhythmia, ankyrin B-related1Jun 21, 2016
Cardiomyopathy1Mar 20, 2018
Catecholaminergic polymorphic ventricular tachycardia type 11Dec 8, 2016
Central core myopathy1Feb 1, 2019
Cerebellar ataxia1Feb 14, 2017
Cerebellar ataxia, nonprogressive, with mental retardation1Jun 21, 2016
Charcot-Marie-Tooth Neuropathy X Type 11Jul 5, 2019
Charcot-Marie-Tooth disease type 2P1Jun 21, 2016
Charlevoix-Saguenay spastic ataxia1Mar 2, 2017
Chorea1Feb 14, 2017
Chronic granulomatous disease, X-linked1Nov 15, 2017
Ciliary dyskinesia, primary, 21Nov 15, 2017
Clinodactyly of the 4th toe1Jun 29, 2018
Clinodactyly of the 5th finger1Jun 29, 2018
Cohen syndrome2May 3, 2016
Common variable immunodeficiency 21Jul 6, 2017
Congenital contracture1Dec 8, 2016
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder1Jun 29, 2018
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A61Nov 15, 2017
Congenital muscular hypertrophy-cerebral syndrome2Jun 13, 2017
Congenital myopathy with fiber type disproportion1May 19, 2017
Continuous spike and waves during slow-wave sleep syndrome1Nov 15, 2017
Cornelia de Lange syndrome 11Dec 8, 2016
Cronkhite-Canada syndrome1Sep 13, 2016
Cystinuria1Jun 21, 2016
De Lange syndrome3Jul 5, 2019
Deafness, autosomal recessive 122Sep 13, 2016
Deafness, autosomal recessive 161Feb 1, 2019
Deafness, autosomal recessive 21Mar 2, 2017
Deafness, autosomal recessive 421Jul 5, 2019
Deafness, autosomal recessive 862Feb 1, 2019
Deeply set eye1Sep 13, 2016
Deficiency of guanidinoacetate methyltransferase2Jul 5, 2019
Delayed speech and language development1Jul 6, 2017
Dilated cardiomyopathy 1A1Feb 1, 2019
Dilated cardiomyopathy 1C1Feb 1, 2019
Dilated cardiomyopathy 1G2Jun 13, 2017
Dilated cardiomyopathy 1KK1Jun 29, 2018
Disproportionate tall stature1Nov 15, 2017
Early infantile epileptic encephalopathy 22Jun 13, 2017
Early infantile epileptic encephalopathy 42Nov 15, 2017
Early infantile epileptic encephalopathy 73Jul 6, 2017
Early infantile epileptic encephalopathy with suppression bursts1Mar 20, 2018
Effort-induced polymorphic ventricular tachycardias1Jun 21, 2016
Ehlers-Danlos syndrome, classic type1Mar 18, 2016
Encephalopathy, familial, with neuroserpin inclusion bodies2May 19, 2017
Epilepsy1Mar 20, 2018
Epilepsy, familial focal, with variable foci 11Jul 5, 2019
Epilepsy, familial temporal lobe, 51Jun 13, 2017
Epilepsy, focal, with speech disorder and with or without mental retardation1Jun 29, 2018
Epilepsy, hearing loss, and mental retardation syndrome1Jun 29, 2018
Epilepsy, nocturnal frontal lobe, type 41Feb 1, 2019
Epileptic encephalopathy1Feb 14, 2017
Epileptic encephalopathy, early infantile, 191Mar 2, 2017
Epileptic encephalopathy, early infantile, 271Dec 8, 2016
Episodic ataxia1Mar 18, 2016
Episodic ataxia type 21May 3, 2016
Familial X-linked hypophosphatemic vitamin D refractory rickets2Jun 29, 2018
Familial amyloid nephropathy with urticaria AND deafness1Dec 8, 2016
Familial cancer of breast2Nov 15, 2017
Familial hemiplegic migraine type 13Jun 13, 2017
Familial hypertrophic cardiomyopathy 11Nov 15, 2017
Familial hypertrophic cardiomyopathy 151Jun 13, 2017
Familial hypertrophic cardiomyopathy 413Feb 1, 2019
Familial hypertrophic cardiomyopathy 81Jun 29, 2018
Familial hypokalemia-hypomagnesemia3Feb 1, 2019
Familial isolated dilated cardiomyopathy2Jun 29, 2018
Familial isolated hyperparathyroidism1Jun 29, 2018
Familial juvenile hyperuricemic nephropathy type 11Mar 2, 2017
Familial thoracic aortic aneurysm and aortic dissection1Jan 12, 2021
Functional motor deficit1Sep 13, 2016
GLUT1 deficiency syndrome1Feb 1, 2019
GLUT1 deficiency syndrome 11Nov 15, 2017
GLUT1 deficiency syndrome 21Jul 6, 2017
Generalized dystonia1Sep 13, 2016
Global developmental delay2Jun 13, 2017
Glomerulopathy1Mar 2, 2017
Gorlin syndrome1Feb 1, 2019
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions2Jun 13, 2017
Hartsfield syndrome1Jun 29, 2018
Helsmoortel-Van der Aa Syndrome1Mar 2, 2017
Hematuria1Mar 2, 2017
Hereditary hemorrhagic telangiectasia type 12Jul 6, 2017
Hereditary motor and sensory neuropathy with optic atrophy1May 19, 2017
Hereditary pancreatitis2Feb 1, 2019
Hereditary spastic paraplegia 72Nov 15, 2017
Hereditary spastic paraplegia 82Nov 15, 2017
Hirschsprung disease3Jul 5, 2019
Hyper-IgE recurrent infection syndrome 1, autosomal dominant1Nov 15, 2017
Hyperinsulinism-hyperammonemia syndrome1May 3, 2016
Hypertonia1Jul 6, 2017
Hypertrophic cardiomyopathy5Jul 5, 2019
Hypogonadotropic hypogonadism 2 with or without anosmia1Dec 8, 2016
Hypophosphatemic rickets, X-linked recessive1Jun 29, 2018
Imerslund-Gräsbeck syndrome2Jul 5, 2019
Immunodeficiency 141Jun 13, 2017
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 11Jun 29, 2018
Infantile muscular hypotonia1Jun 13, 2017
Infantile nephronophthisis2Jul 5, 2019
Intellectual disability4Jun 13, 2017
Intellectual disability syndrome due to a DYRK1A point mutation1Mar 20, 2018
Intellectual disability, mild1Jul 5, 2019
Interstitial nephritis, karyomegalic2May 19, 2017
Islet cell hyperplasia2Jun 21, 2016
Isolated anophthalmia-microphthalmia syndrome1Jun 29, 2018
Junctional epidermolysis bullosa, non-Herlitz type1Nov 15, 2017
KBG syndrome2Jun 13, 2017
Kabuki syndrome 14Jul 6, 2017
Kabuki syndrome 21Dec 8, 2016
LEOPARD syndrome 11May 3, 2016
Leber congenital amaurosis2Jun 29, 2018
Left ventricular noncompaction 62Jun 13, 2017
Lethal congenital contracture syndrome 111Jun 29, 2018
Lig4 syndrome2Dec 8, 2016
Lissencephaly due to LIS1 mutation1Feb 14, 2017
Long QT syndrome 22Jul 5, 2019
Macrocephalus1Sep 13, 2016
Marfan syndrome5Jul 5, 2019
Melanoma-pancreatic cancer syndrome1Feb 1, 2019
Mental retardation and distinctive facial features with or without cardiac defects1Jul 6, 2017
Mental retardation and microcephaly with pontine and cerebellar hypoplasia1Jun 13, 2017
Mental retardation with language impairment and with or without autistic features1Jul 6, 2017
Mental retardation, X-linked 11Dec 8, 2016
Mental retardation, X-linked 981Mar 2, 2017
Mental retardation, autosomal dominant 191Jun 21, 2016
Mental retardation, autosomal dominant 221Mar 2, 2017
Mental retardation, autosomal dominant 291Mar 18, 2016
Mental retardation, autosomal dominant 41Mar 18, 2016
Mental retardation, autosomal dominant 52Jun 13, 2017
Mental retardation, autosomal dominant 72Jun 13, 2017
Mental retardation, syndromic, Claes-Jensen type, X-linked1Dec 8, 2016
Microcephalic osteodysplastic primordial dwarfism type II1Jun 13, 2017
Microcephaly1Sep 13, 2016
Microcytic anemia1Feb 1, 2019
Mitochondrial complex III deficiency, nuclear type 21May 19, 2017
Mitochondrial short-chain enoyl-coa hydratase 1 deficiency2Feb 14, 2017
Moderate global developmental delay3Jun 29, 2018
Multiple congenital anomalies-hypotonia-seizures syndrome 21Dec 8, 2016
Multiple exostoses type 11Nov 15, 2017
Mutism1Dec 8, 2016
Myasthenic syndrome, congenital, 81Feb 14, 2017
Myoclonic dystonia 111Dec 8, 2016
Myofibrillar myopathy 11Feb 14, 2017
Nemaline myopathy 41May 19, 2017
Nemaline myopathy 92Jul 5, 2019
Neurodegeneration with brain iron accumulation 51Mar 20, 2018
Neurodevelopmental delay1Jun 21, 2016
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant1Mar 2, 2017
Neurofibromatosis, type 110Jun 29, 2018
Neurofibromatosis-Noonan syndrome1Jun 29, 2018
Neuronal ceroid lipofuscinosis 101Mar 18, 2016
Nicolaides-Baraitser syndrome1Feb 14, 2017
Nonsyndromic hearing loss and deafness1Mar 20, 2018
Noonan syndrome1Jun 29, 2018
Noonan syndrome 16Feb 1, 2019
Noonan syndrome 41Jul 6, 2017
Osteogenesis imperfecta2Feb 1, 2019
Paroxysmal extreme pain disorder1Jun 13, 2017
Pelizaeus-Merzbacher disease1Mar 2, 2017
Peroxisome biogenesis disorder 1A (Zellweger)2Jul 5, 2019
Perrault syndrome2Jul 5, 2019
Pettigrew syndrome1Feb 14, 2017
Pheochromocytoma1Mar 2, 2017
Pitt-Hopkins syndrome3Jul 5, 2019
Polycystic kidney disease 21Mar 2, 2017
Presynaptic congenital myasthenic syndrome1Jun 29, 2018
Primary autosomal recessive microcephaly 52Sep 13, 2016
Primary autosomal recessive microcephaly 81Jul 6, 2017
Primary ciliary dyskinesia2Mar 20, 2018
Primary dilated cardiomyopathy4Mar 20, 2018
Profound global developmental delay1Feb 14, 2017
Progressive familial intrahepatic cholestasis 42Mar 2, 2017
Prolonged QT interval1Mar 2, 2017
Psychosis1Dec 8, 2016
Pyruvate dehydrogenase E1-alpha deficiency1Jul 6, 2017
Renal hypoplasia (disease)1Jun 21, 2016
Rett syndrome1Mar 2, 2017
Rhabdoid tumor predisposition syndrome 11Jul 5, 2019
Rubinstein-Taybi syndrome 12Jun 29, 2018
Rubinstein-Taybi syndrome 21Mar 2, 2017
Seizures6Jul 5, 2019
Seizures, benign familial infantile, 31Jul 5, 2019
Severe myoclonic epilepsy in infancy1Sep 13, 2016
Severe postnatal growth retardation1Mar 20, 2018
Short-rib thoracic dysplasia 3 with or without polydactyly2May 19, 2017
Smith-Lemli-Opitz syndrome2Mar 2, 2017
Spastic paraplegia 4, autosomal dominant2Feb 14, 2017
Spastic paraplegia 56, autosomal recessive2Jul 6, 2017
Specific learning disability1Sep 13, 2016
Spinocerebellar ataxia type 51May 3, 2016
Spondyloepiphyseal dysplasia congenita1Feb 1, 2019
Stargardt disease 11Jul 6, 2017
Storage pool disease of platelets1Jun 29, 2018
Syndromic X-linked mental retardation, Cabezas type2Feb 1, 2019
Synostosis involving bones of the lower limbs1Mar 20, 2018
TNF receptor-associated periodic fever syndrome (TRAPS)1Mar 20, 2018
Telangiectasia, hereditary hemorrhagic, type 23Jul 5, 2019
Thrombocytopenia 21Jul 5, 2019
Tuberous sclerosis 11Feb 14, 2017
Tuberous sclerosis 24Jun 13, 2017
Tumor susceptibility linked to germline BAP1 mutations1Nov 15, 2017
Tyrosinase-negative oculocutaneous albinism3Jun 29, 2018
Usher syndrome type 22Jul 5, 2019
Usher syndrome, type 2A2May 19, 2017
Vertigo1Mar 18, 2016
X-linked hydrocephalus syndrome1May 3, 2016
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