Centre de Biologie Pathologie Génétique (Centre Hospitalier Universitaire de Lille), CHRUL

General information

Centre de Biologie Pathologie Génétique, CHRUL
Centre Hospitalier Universitaire de Lille
Lille
Nord-Pas-de-Calais
France - 59000

Organization ID: 505759

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 1177

Gene

GeneSubmissionsLast Updated
ABHD14A-ACY12May 5, 2020
ACSL41May 5, 2020
ACTG12May 5, 2020
ACY12May 5, 2020
ADAT32May 5, 2020
ADNP5May 5, 2020
ADNP-AS11May 5, 2020
ADSL1May 5, 2020
AFF23May 5, 2020
AGA4May 5, 2020
AHDC17May 5, 2020
AHI16May 5, 2020
ALDH4A17May 5, 2020
ALDH5A13May 5, 2020
ALDH7A12May 5, 2020
ALG12May 5, 2020
ALG132May 5, 2020
AMPD22May 5, 2020
ANGPT21May 5, 2020
ANK29May 5, 2020
ANK39May 5, 2020
ANKH2May 5, 2020
ANKRD1117May 5, 2020
ANO53May 5, 2020
AP3B21May 5, 2020
AP4B13May 5, 2020
AP4B1-AS13May 5, 2020
AP4M12May 5, 2020
ARFGEF1-DT2May 5, 2020
ARFGEF24May 5, 2020
ARHGEF61May 5, 2020
ARHGEF91May 5, 2020
ARID1A6May 5, 2020
ARID1B13May 5, 2020
ARSA3May 5, 2020
ARX1May 5, 2020
ASH1L8May 5, 2020
ASPA1May 5, 2020
ASPM16May 5, 2020
ASXL15May 5, 2020
ASXL36May 5, 2020
ATIC1May 5, 2020
ATP1A32May 5, 2020
ATP7A3May 5, 2020
ATRX4May 5, 2020
AUTS24May 5, 2020
BCL11A1May 5, 2020
BCOR3May 5, 2020
BRAT17May 5, 2020
BRPF16May 5, 2020
BRWD33May 5, 2020
BTD4May 5, 2020
C12orf292May 5, 2020
C12orf571May 5, 2020
CACNA1A9May 5, 2020
CACNA1D7May 5, 2020
CACNA1E1May 5, 2020
CAMK2A2May 5, 2020
CAMTA17May 5, 2020
CASK1May 5, 2020
CBS4May 5, 2020
CC2D1A4May 5, 2020
CCDC1341Sep 27, 2018
CCDC222May 5, 2020
CDH152May 5, 2020
CDK135May 5, 2020
CDK5RAP26May 5, 2020
CEP29013May 5, 2020
CERT11May 5, 2020
CHD24May 5, 2020
CHD33May 5, 2020
CHD43May 5, 2020
CHD78May 5, 2020
CHD88May 5, 2020
CHRNA21May 5, 2020
CHRNA41May 5, 2020
CHRNB21May 5, 2020
CIC4May 5, 2020
CLCN24May 5, 2020
CLN33May 5, 2020
CLN51May 5, 2020
CLN84May 5, 2020
CNOT33May 5, 2020
CNTNAP23May 5, 2020
COL2A12May 5, 2020
CPA63May 5, 2020
CRB14May 5, 2020
CRBN1May 5, 2020
CREBBP11May 5, 2020
CSNK2A11May 5, 2020
CTCF1May 5, 2020
CTNNB12May 5, 2020
CUL31May 5, 2020
CUL4B2May 5, 2020
CUX25May 5, 2020
CYP27A15May 5, 2020
DDX3X4May 5, 2020
DEAF12May 5, 2020
DEPDC53May 5, 2020
DHCR71May 5, 2020
DLG32May 5, 2020
DLG43May 5, 2020
DOCK613May 5, 2020
DOCK815May 5, 2020
DPM11May 5, 2020
DSCAM6May 5, 2020
DUSP291May 5, 2020
DYNC1H17May 5, 2020
DYNC2H114May 5, 2020
DYRK1A3May 5, 2020
EBF34May 5, 2020
EEF1A22May 5, 2020
EHMT15May 5, 2020
EP30010May 5, 2020
EPB41L13May 5, 2020
EPM2A1May 5, 2020
FAM47A3May 5, 2020
FARS21May 5, 2020
FBXL31May 5, 2020
FBXO118May 5, 2020
FGD15May 5, 2020
FLNA4May 5, 2020
FMN24May 5, 2020
FMR11May 5, 2020
FOLR11May 5, 2020
FOXG12May 5, 2020
FOXP14May 5, 2020
FOXP22May 5, 2020
FRAS13Jun 12, 2019
FRMPD41May 5, 2020
FTCD8May 5, 2020
FTCD-AS12May 5, 2020
FTSJ12May 5, 2020
FUCA13May 5, 2020
GABRB31May 5, 2020
GABRD1May 5, 2020
GABRG21May 5, 2020
GALC4May 5, 2020
GAMT2May 5, 2020
GATA43May 5, 2020
GATAD2B2Jun 1, 2020
GATM2May 5, 2020
GCDH3May 5, 2020
GDI11May 5, 2020
GJC21May 5, 2020
GLB13May 5, 2020
GLUD11May 5, 2020
GNAO12May 5, 2020
GPLD11May 5, 2020
GPT22May 5, 2020
GRIK21May 5, 2020
GRIN14May 5, 2020
GRIN2A4May 5, 2020
GRIN2B4May 5, 2020
GRIN2D8May 5, 2020
GRIP13May 5, 2020
GUSB2May 5, 2020
HCCS1May 5, 2020
HCN12May 5, 2020
HDAC42May 5, 2020
HDAC81May 5, 2020
HECW24May 5, 2020
HEPACAM1May 5, 2020
HEXA2May 5, 2020
HGSNAT3May 5, 2020
HIVEP23May 5, 2020
HOXA13May 5, 2020
HUWE12May 5, 2020
IGF11May 5, 2020
IQSEC23May 5, 2020
ITPR19May 5, 2020
KANSL12May 5, 2020
KANSL21May 5, 2020
KAT6A12May 5, 2020
KAT6B8May 5, 2020
KCNA21May 5, 2020
KCNB11May 5, 2020
KCNH12May 5, 2020
KCNJ102May 5, 2020
KCNMA13May 5, 2020
KCNMA1-AS11May 5, 2020
KCNQ26May 5, 2020
KCNQ32May 5, 2020
KCNQ53May 5, 2020
KCTD72May 5, 2020
KDM5C2Feb 10, 2017
KDM6A3May 5, 2020
KDM6B11May 5, 2020
KIF111May 5, 2020
KIF1A7May 5, 2020
KIF79May 5, 2020
KMT2A13May 5, 2020
KMT2B11May 5, 2020
KMT2C9May 5, 2020
KMT2D18May 5, 2020
LAMA214May 5, 2020
LAMC312May 5, 2020
LAS1L2May 5, 2020
LGI11May 5, 2020
LIX1L-AS11Mar 10, 2020
LOC1001307441May 5, 2020
LOC1027240581May 5, 2020
LOC1053722733May 5, 2020
LOC1079880321May 5, 2020
LOC1082811341May 5, 2020
LOC1153081616May 5, 2020
LRP217May 5, 2020
MAF1May 5, 2020
MAN1B14May 5, 2020
MAN2B15May 5, 2020
MANBA6May 5, 2020
MAOA3May 5, 2020
MAST14May 5, 2020
MBD52May 5, 2020
MCM71May 5, 2020
MCPH15May 5, 2020
MCPH1-AS11May 5, 2020
MEA11May 5, 2020
MECP26May 5, 2020
MED16May 5, 2020
MED124May 5, 2020
MED133May 5, 2020
MED13L7May 5, 2020
MED143May 5, 2020
MED171May 5, 2020
MED191May 5, 2020
MED231May 5, 2020
MEIS21May 5, 2020
MET4May 5, 2020
MFSD81May 5, 2020
MOCS15May 5, 2020
MTHFR4May 5, 2020
MTOR1May 5, 2020
MTR4May 5, 2020
MYCN2May 5, 2020
MYO5A5May 5, 2020
MYT13May 5, 2020
MYT1L5May 5, 2020
NAA101Feb 16, 2017
NAGLU8May 5, 2020
NALCN1May 5, 2020
NCAPD36May 5, 2020
NDE12May 5, 2020
NDST15May 5, 2020
NEDD4L1May 5, 2020
NFIX1May 5, 2020
NHS4May 5, 2020
NIPBL3May 5, 2020
NLGN31May 5, 2020
NR2F11May 5, 2020
NRXN17May 5, 2020
NRXN23May 5, 2020
NSD17May 5, 2020
NSUN25May 5, 2020
OFD13May 5, 2020
OPHN11May 5, 2020
OTULIN1May 5, 2020
PACS14May 5, 2020
PACS25May 5, 2020
PAH3May 5, 2020
PCDH191May 5, 2020
PEX71May 5, 2020
PHF31May 5, 2020
PHF81May 5, 2020
PHIP1May 5, 2020
PIGA2May 5, 2020
PIGO1May 5, 2020
POGZ2May 5, 2020
POLG6May 5, 2020
POLK1May 5, 2020
POLR3B1Feb 16, 2017
POMT11May 5, 2020
POMT22May 5, 2020
PPP1CB1May 5, 2020
PPP2R5D1May 5, 2020
PPT12May 5, 2020
PRICKLE13May 5, 2020
PTCHD11May 5, 2020
PUF604May 5, 2020
PURA1May 5, 2020
RBM101May 5, 2020
RBM8A3Mar 10, 2020
RELN4May 5, 2020
RPS6KA32May 5, 2020
SCAMP42May 5, 2020
SCN1A3May 5, 2020
SCN2A2May 5, 2020
SCN8A2May 5, 2020
SETBP14May 5, 2020
SETD55May 5, 2020
SHANK11May 5, 2020
SHANK21Feb 16, 2017
SHANK34May 5, 2020
SHOC21May 5, 2020
SHROOM43May 5, 2020
SKI4May 5, 2020
SLC16A21May 5, 2020
SLC19A31May 5, 2020
SLC25A151May 5, 2020
SLC2A11May 5, 2020
SLC46A11May 5, 2020
SLC6A12May 5, 2020
SLC6A1-AS11May 5, 2020
SLC9A65May 5, 2020
SMARCA22Jul 4, 2017
SMARCA42May 5, 2020
SMC1A1Feb 10, 2017
SNHG141May 5, 2020
SOX31May 5, 2020
SPATA221May 5, 2020
SPG113May 5, 2020
SPTAN11May 5, 2020
SRCAP1May 5, 2020
ST3GAL31May 5, 2020
SYN11May 5, 2020
SYNE111May 5, 2020
SYNGAP16May 5, 2020
SZT21May 5, 2020
TAB21May 5, 2020
TBC1D241May 5, 2020
TBR12May 5, 2020
TBX564Jul 2, 2018
TCF201May 5, 2020
TCF41May 5, 2020
TMEM671May 5, 2020
TPP13May 5, 2020
TRAPPC910May 5, 2020
TRIO1May 5, 2020
TRRAP1May 5, 2020
TSPAN72May 5, 2020
TUBB31May 5, 2020
UBE3A1May 5, 2020
UNC801May 5, 2020
VCP2May 5, 2020
VLDLR1May 5, 2020
VPS13B6May 5, 2020
WDFY32May 5, 2020
WDFY3-AS11May 5, 2020
WDR191May 5, 2020
WDR452May 5, 2020
WDR622May 5, 2020
WNT10B4Sep 27, 2018
WWOX2May 5, 2020
ZBTB182May 5, 2020
ZBTB201May 5, 2020
ZEB23May 5, 2020
ZNF2921May 5, 2020

Condition

NameSubmissionsLast Updated
22q13.3 deletion syndrome4May 5, 2020
Angelman syndrome1May 5, 2020
Autism 171Feb 16, 2017
Autism spectrum disorder1May 5, 2020
Autism, susceptibility to, 182Feb 15, 2017
Autistic disorder of childhood onset1May 5, 2020
Bainbridge-Ropers syndrome1May 5, 2020
Bohring-Opitz syndrome1May 5, 2020
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia2May 5, 2020
Christianson syndrome2Feb 10, 2017
Cleft palate, cardiac defects, and mental retardation1May 5, 2020
Coffin-Lowry syndrome1May 5, 2020
Coffin-Siris syndrome2May 5, 2020
Cohen syndrome4May 5, 2020
Congenital contractures of the limbs and face, hypotonia, and developmental delay1May 5, 2020
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder1May 5, 2020
Congenital heart defects, multiple types, 21May 5, 2020
Congenital muscular hypertrophy-cerebral syndrome1Feb 10, 2017
Cornelia de Lange syndrome 51May 5, 2020
Cortical dysplasia, complex, with other brain malformations 11May 5, 2020
Deficiency of alpha-mannosidase2May 5, 2020
Developmental delay with or without dysmorphic facies and autism1May 5, 2020
Developmental delay with variable intellectual impairment and behavioral abnormalities1May 5, 2020
Developmental delay, intellectual disability, obesity, and dysmorphic features1May 5, 2020
Early infantile epileptic encephalopathy 111May 5, 2020
Early infantile epileptic encephalopathy 132May 5, 2020
Early infantile epileptic encephalopathy 171May 5, 2020
Early infantile epileptic encephalopathy 71Jul 4, 2017
Early infantile epileptic encephalopathy 91May 5, 2020
Epilepsy, X-linked, with variable learning disabilities and behavior disorders1May 5, 2020
Epilepsy, childhood absence 51May 5, 2020
Epilepsy, focal, with speech disorder and with or without mental retardation1May 5, 2020
Epileptic encephalopathy, early infantile, 16May 5, 2020
Epileptic encephalopathy, early infantile, 331May 5, 2020
Feingold syndrome 11May 5, 2020
Fraser syndrome 13Jun 12, 2019
GLUT1 deficiency syndrome 11May 5, 2020
Helsmoortel-Van der Aa Syndrome2May 5, 2020
Holt-Oram syndrome64Jul 2, 2018
Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism1Feb 16, 2017
Hypotonia, ataxia, and delayed development syndrome1May 5, 2020
Intellectual developmental disorder 611May 5, 2020
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities2May 5, 2020
Intellectual developmental disorder with dysmorphic facies and ptosis3May 5, 2020
Intellectual developmental disorder with persistence of fetal hemoglobin1May 5, 2020
Intellectual disability908May 5, 2020
Intellectual disability, autosomal dominant 461May 5, 2020
Intellectual disability, autosomal dominant 531May 5, 2020
Intellectual disability, autosomal dominant 91May 5, 2020
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome1May 5, 2020
Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome2May 5, 2020
Joubert syndrome 32May 5, 2020
KAT6A syndrome5May 5, 2020
KBG syndrome7May 5, 2020
Kabuki syndrome 16May 5, 2020
Kabuki syndrome 21May 5, 2020
Kleefstra syndrome 21May 5, 2020
Mental retardation 63, X-linked1May 5, 2020
Mental retardation 9, X-linked1May 5, 2020
Mental retardation and distinctive facial features with or without cardiac defects3May 5, 2020
Mental retardation, X-linked 13May 5, 2020
Mental retardation, X-linked 1024May 5, 2020
Mental retardation, X-linked, syndromic 131Feb 15, 2017
Mental retardation, autosomal dominant4Feb 16, 2017
Mental retardation, autosomal dominant 131May 5, 2020
Mental retardation, autosomal dominant 182Jun 1, 2020
Mental retardation, autosomal dominant 222May 5, 2020
Mental retardation, autosomal dominant 235May 5, 2020
Mental retardation, autosomal dominant 291May 5, 2020
Mental retardation, autosomal dominant 311May 5, 2020
Mental retardation, autosomal dominant 321Sep 12, 2016
Mental retardation, autosomal dominant 351May 5, 2020
Mental retardation, autosomal dominant 391May 5, 2020
Mental retardation, autosomal dominant 441May 5, 2020
Mental retardation, autosomal dominant 56May 5, 2020
Mental retardation, autosomal dominant 62May 5, 2020
Mental retardation, autosomal dominant 72May 5, 2020
Mental retardation, syndromic, Claes-Jensen type, X-linked2Feb 10, 2017
Microcephaly 18, primary, autosomal dominant2May 5, 2020
Mowat-Wilson syndrome3May 5, 2020
Myoclonic-atonic epilepsy1May 5, 2020
Neurodegeneration with brain iron accumulation 52May 5, 2020
Neurodevelopmental disorder with hypotonia, seizures, and absent language1May 5, 2020
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant1May 5, 2020
Noonan syndrome-like disorder with loose anagen hair 21May 5, 2020
Ohdo syndrome, X-linked2May 5, 2020
Okur-chung neurodevelopmental syndrome1May 5, 2020
Ovarian dysgenesis 31Feb 15, 2017
Periventricular nodular heterotopia 11May 5, 2020
Pitt-Hopkins syndrome1May 5, 2020
Radial aplasia-thrombocytopenia syndrome3Mar 10, 2020
Recurrent fractures1Sep 27, 2018
Rett syndrome4May 5, 2020
Rett syndrome, congenital variant1May 5, 2020
Rigidity and multifocal seizure syndrome, lethal neonatal1May 5, 2020
Rubinstein-Taybi syndrome 12May 5, 2020
Rubinstein-Taybi syndrome 22Feb 10, 2017
Severe myoclonic epilepsy in infancy1May 5, 2020
Shprintzen-Goldberg syndrome2May 5, 2020
Sifrim-Hitz-Weiss syndrome1May 5, 2020
Snijders blok-campeau syndrome1May 5, 2020
Sotos syndrome 14May 5, 2020
Spinocerebellar ataxia type 291May 5, 2020
Split-hand/foot malformation 64Sep 27, 2018
Syndromic X-linked mental retardation, Cabezas type1Feb 10, 2017
Verheij syndrome4May 5, 2020
White-sutton syndrome2May 5, 2020
Wiedemann-Steiner syndrome9May 5, 2020
X-Linked Mental Retardation 411May 5, 2020
X-linked intellectual disability-hypotonic face syndrome2May 5, 2020
Xia-Gibbs syndrome1May 5, 2020
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