Department of Genetics (Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine), LABOGENMOL

General information

Department of Genetics, LABOGENMOL
Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine
22 Boulevard Gambetta
Rouen
France - 76000
http://medecine-pharmacie.univ-rouen.fr/genomic-and-personalized-medicine-in-cancer-and-neurological-disorders-279535.kjsp
Organization ID: 506968

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 192

Gene

GeneSubmissionsLast Updated
ABL11Nov 6, 2020
AGO12Nov 6, 2020
AHDC14Nov 6, 2020
ANKRD111Jun 12, 2019
ARID1B2Nov 6, 2020
ARID21Nov 6, 2020
ASNS2Nov 6, 2020
ASXL11Nov 6, 2020
ASXL31Nov 6, 2020
AUTS21Nov 6, 2020
BCL11A1Nov 6, 2020
BPTF1Nov 6, 2020
BRPF11Nov 6, 2020
CACNA1A3Nov 6, 2020
CACNA1C1Nov 6, 2020
CACNA1G2Nov 6, 2020
CAMTA13Nov 6, 2020
CDH232Nov 6, 2020
CDK131Nov 6, 2020
CDX21Feb 12, 2020
CHD11Nov 6, 2020
CHD21Nov 6, 2020
CHD31Nov 6, 2020
CHD42Nov 6, 2020
CHD71Nov 6, 2020
CLDN51Nov 6, 2020
CLTC3Nov 6, 2020
CNNM21Nov 6, 2020
COL11A11Nov 6, 2020
CREBBP1Nov 6, 2020
CTNNB13Nov 6, 2020
CUL31Nov 6, 2020
CZ1P-ASNS2Nov 6, 2020
DDX3X2Nov 6, 2020
DPP61Nov 6, 2020
DYNC1H13Nov 6, 2020
DYRK1A1May 14, 2019
EHMT11Nov 6, 2020
EP3001Jun 12, 2019
EXOSC31Oct 23, 2019
FBN22Nov 6, 2020
FMN22Nov 6, 2020
FMR11Nov 6, 2020
FOXG11Jun 12, 2019
FOXP15Nov 6, 2020
GABRA11Nov 6, 2020
GABRB31Nov 6, 2020
GATAD2B2Jun 12, 2019
GNAI11Nov 6, 2020
GNB11Nov 6, 2020
GRIA31Nov 6, 2020
GRIN11Jun 12, 2019
GRIN2A2Jun 12, 2019
GRIN2B1Jun 12, 2019
HCFC11Nov 6, 2020
HCN11Nov 6, 2020
HDAC41Nov 6, 2020
HDAC83Jun 12, 2019
HECW21Nov 6, 2020
HUWE12Nov 6, 2020
IQSEC11Nov 6, 2020
IQSEC21Nov 6, 2020
IRF2BPL1Nov 6, 2020
KANSL11Nov 6, 2020
KAT6A2Nov 6, 2020
KCNB11Nov 6, 2020
KCNQ51Nov 6, 2020
KCNT11Nov 6, 2020
KDM5C1Jun 12, 2019
KDM6B1Nov 6, 2020
KIF1A1Nov 6, 2020
KMT2A1Jun 12, 2019
KMT2C1Nov 6, 2020
KRAS1Nov 6, 2020
MANBA1Nov 6, 2020
MECP25Nov 6, 2020
MED13L1Jun 12, 2019
MN12Nov 6, 2020
MSL31Nov 6, 2020
MYH101Nov 6, 2020
MYT1L3Nov 6, 2020
NAA102Jun 12, 2019
NFE2L21Nov 6, 2020
NGLY11Nov 6, 2020
PBX11Nov 6, 2020
PDHA11Nov 6, 2020
PDS5A1Nov 6, 2020
PHACTR11Nov 6, 2020
PHF81Nov 6, 2020
PIGO2Nov 6, 2020
PLEKHG21Nov 6, 2020
POMT11Nov 6, 2020
PORCN1Nov 6, 2020
POU3F31Nov 6, 2020
PRMT72Nov 6, 2020
PRPF82Nov 6, 2020
PTPN61Nov 6, 2020
PUF601Nov 6, 2020
PUM11Nov 6, 2020
PURA1Nov 6, 2020
SATB22Jun 12, 2019
SCN3A1Nov 6, 2020
SCN8A4Jun 12, 2019
SENP81Nov 6, 2020
SEPSECS1Nov 6, 2020
SETD51Nov 6, 2020
SKI1Nov 6, 2020
SLC6A81Jun 12, 2019
SMC31Nov 6, 2020
SMG71Nov 6, 2020
SMG91Nov 6, 2020
SNHG141Nov 6, 2020
SON1Nov 6, 2020
SOX51Nov 6, 2020
SPEN1Nov 6, 2020
SPTBN11Nov 6, 2020
SQSTM11Nov 6, 2020
SRRM21Nov 6, 2020
STX1A1Nov 6, 2020
STXBP12Jun 12, 2019
SYNE11Nov 6, 2020
SYNGAP11Jun 12, 2019
TANGO21Nov 6, 2020
TBX63Nov 6, 2020
TCF201Nov 6, 2020
TCF41Jun 12, 2019
TCF7L21Nov 6, 2020
TFAP2A1Nov 6, 2020
THOC22Nov 6, 2020
TRIO1Nov 6, 2020
TRIP121Nov 6, 2020
TRRAP1Nov 6, 2020
TTBK11Nov 6, 2020
UBE3A1Nov 6, 2020
USP9X2Nov 6, 2020
VPS531Nov 6, 2020
WDR451Jun 12, 2019
ZBTB181Nov 6, 2020
ZDHHC91Nov 6, 2020
ZFHX31Nov 6, 2020
ZMIZ11Nov 6, 2020
ZSWIM61Nov 6, 2020

Condition

NameSubmissionsLast Updated
Abnormal facial shape1Jun 12, 2019
Abnormality of the cerebellum1Oct 23, 2019
Angelman syndrome1Nov 6, 2020
Arboleda-Tham syndrome1Nov 6, 2020
Autistic disorder of childhood onset1Jun 12, 2019
Beta-D-mannosidosis1Nov 6, 2020
CEBALID syndrome1Nov 6, 2020
Cerebellar ataxia2Jun 12, 2019
Cerebellar ataxia, nonprogressive, with mental retardation1Nov 6, 2020
Chromosome 2q32-q33 deletion syndrome2Jun 12, 2019
Clark-Baraitser syndrome1Nov 6, 2020
Coffin-Siris syndrome 12Nov 6, 2020
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay1Nov 6, 2020
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder1Nov 6, 2020
Creatine transporter deficiency1Jun 12, 2019
Developmental delay with or without dysmorphic facies and autism1Nov 6, 2020
Epileptic encephalopathy, early infantile, 422Nov 6, 2020
Epileptic encephalopathy, early infantile, 431Nov 6, 2020
Fetal akinesia sequence1Oct 23, 2019
Focal dermal hypoplasia1Nov 6, 2020
Hyperphosphatasia with mental retardation syndrome 22Nov 6, 2020
Hypoplasia of the pons1Oct 23, 2019
Intellectual developmental disorder with dysmorphic facies and ptosis1Nov 6, 2020
Intellectual disability24Jun 12, 2019
Intellectual disability, autosomal dominant 461Nov 6, 2020
Intellectual disability, autosomal dominant 562Nov 6, 2020
Intellectual disability, autosomal dominant 91Nov 6, 2020
KBG syndrome1Jun 12, 2019
Kleefstra syndrome 11Nov 6, 2020
Lamb-shaffer syndrome1Nov 6, 2020
Lissencephaly1Oct 23, 2019
Mental retardation with language impairment and with or without autistic features3Nov 6, 2020
Mental retardation, X-linked 11Nov 6, 2020
Mental retardation, X-linked 121Nov 6, 2020
Mental retardation, X-linked 99, syndromic, female-restricted2Nov 6, 2020
Mental retardation, autosomal dominant 181Jun 12, 2019
Mental retardation, autosomal dominant 192Nov 6, 2020
Mental retardation, autosomal dominant 311Nov 6, 2020
Mental retardation, autosomal dominant 392Nov 6, 2020
Mental retardation, autosomal dominant 51Jun 12, 2019
Mental retardation, autosomal dominant 71May 14, 2019
Mental retardation, syndromic, Claes-Jensen type, X-linked1Jun 12, 2019
Microcephaly1Oct 23, 2019
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset1Nov 6, 2020
Neurodegeneration with brain iron accumulation 51Jun 12, 2019
Neurodevelopmental abnormality108Nov 6, 2020
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant1Jun 12, 2019
Noonan syndrome 32Nov 6, 2020
Paucity of anterior horn motor neurons1Oct 23, 2019
Postaxial polydactyly1Jun 12, 2019
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome1Nov 6, 2020
Rett syndrome2Nov 6, 2020
Rett syndrome, congenital variant1Jun 12, 2019
Seizures5Jun 12, 2019
Severe intrauterine growth retardation1Oct 23, 2019
Sifrim-Hitz-Weiss syndrome2Nov 6, 2020
Sirenomelia1Feb 12, 2020
Spinocerebellar ataxia 471Nov 6, 2020
Syndromic X-linked intellectual disability Siderius type1Nov 6, 2020
Wiedemann-Steiner syndrome1Jun 12, 2019
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