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Laboratoire de Génétique Moléculaire (CHU Bordeaux), GenMol

General information

Laboratoire de Génétique Moléculaire, GenMol
CHU Bordeaux
Place Amélie Raba Léon
Bordeaux
Aquitaine
France - 33076

Organization ID: 506172

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 264

Gene

GeneSubmissionsLast Updated
ACTB1Aug 31, 2022
ADNP2Mar 6, 2023
AFG3L21Jan 5, 2021
AGO12Jan 5, 2021
AHDC11Aug 31, 2022
ANKRD111Mar 6, 2023
AP1S22Mar 6, 2023
ARHGEF91Jan 5, 2021
ARID1A1Mar 6, 2023
ARID1B2Mar 6, 2023
ASNS4Jan 5, 2021
ASXL12Jan 5, 2021
ASXL31Jan 5, 2021
ATN11Aug 31, 2022
ATP2B11Aug 31, 2022
ATP6AP11Mar 6, 2023
ATP8A21Jan 5, 2021
ATRX1Jan 5, 2021
BCL11A2Aug 31, 2022
BCL11B1Mar 6, 2023
BCOR1Jan 5, 2021
BICRA1Aug 31, 2022
BLOC1S62Mar 18, 2020
BRPF11Mar 6, 2023
C12orf571Mar 6, 2023
CACNA1A2Mar 7, 2023
CAMK2A2Mar 6, 2023
CDK101Jan 5, 2021
CDK131Mar 6, 2023
CHAMP11Mar 6, 2023
CHD22Mar 6, 2023
CHD41Jan 5, 2021
CHN11Jan 5, 2021
CLCN41Jan 5, 2021
CLTC2Jan 5, 2021
CNOT11Mar 6, 2023
CNTNAP12Aug 31, 2022
COL4A11Jan 5, 2021
CSNK2A11Aug 31, 2022
CSNK2B1Jan 5, 2021
CTC12Jan 5, 2021
CTCF1Mar 6, 2023
CTNNB12Jan 5, 2021
CYP2U12Jan 5, 2021
CZ1P-ASNS4Jan 5, 2021
DCAF171Aug 31, 2022
DDB11Mar 6, 2023
DDX3X1Mar 7, 2023
DEAF11Mar 6, 2023
DYNC1H11Mar 6, 2023
DYRK1A2Aug 31, 2022
EBF31Jan 5, 2021
EEF1A22Mar 6, 2023
EHMT11Mar 6, 2023
EIF2B52Jan 5, 2021
EPRS12Aug 22, 2022
ERCC82Jan 5, 2021
EZH21Mar 6, 2023
FANCI1Aug 31, 2022
FOXG11Jan 5, 2021
FOXP12Mar 6, 2023
FOXP21Jan 5, 2021
FYCO11Jan 5, 2021
GABRB31Mar 6, 2023
GALC2Jan 5, 2021
GJB22Jan 5, 2021
GRHL21Jan 5, 2021
GRIN2A1Jan 5, 2021
H1-41Jan 5, 2021
H3-3B1Mar 6, 2023
HDAC81Jan 5, 2021
HGD1Aug 31, 2022
HIVEP21Aug 31, 2022
HNRNPU1Jan 5, 2021
HPRT11Jan 5, 2021
HPS511May 2, 2017
JAG11Aug 31, 2022
KAT6A1Jan 5, 2021
KAT6B1Jan 5, 2021
KCNK41Mar 6, 2023
KCNK4-CATSPERZ1Mar 6, 2023
KCNQ21Mar 6, 2023
KDM5C1Mar 6, 2023
KIRREL31Jan 5, 2021
KLF9-DT2Mar 6, 2023
KMT2A3Mar 6, 2023
KMT2C1Mar 6, 2023
KMT2D2Mar 6, 2023
LINC021661Jan 5, 2021
LOC1082811771Jan 5, 2021
LOC1251774811Aug 31, 2022
LOC1268066581Jan 5, 2021
LOC1268632071Mar 7, 2023
LOC1268632391Jan 5, 2021
LOC1299298371Mar 6, 2023
LOC1299923301Jan 5, 2021
MAGEL21Jan 5, 2021
MEA12Mar 7, 2023
MECP24Mar 6, 2023
MED121Aug 31, 2022
MED13L1Aug 31, 2022
MED231Jan 5, 2021
MEF2C2Mar 6, 2023
MID12Mar 7, 2023
MIP1Jan 5, 2021
MYH61Jan 5, 2021
NAA152Mar 6, 2023
NALCN3Jan 5, 2021
NDST11Aug 31, 2022
NEXMIF1Jan 5, 2021
NF11Aug 31, 2022
NFIA1Mar 6, 2023
NGLY11Aug 31, 2022
NPC11Jan 5, 2021
OCA222Feb 21, 2023
PACS11Jan 5, 2021
PAK11Mar 6, 2023
PAX31Jan 5, 2021
PAX61Jan 5, 2021
PCCA1Mar 6, 2023
PEX12Jan 5, 2021
PIGA1Jan 5, 2021
PIGN2Aug 31, 2022
PIK3CA2Aug 31, 2022
PLD11Jan 5, 2021
PPP2R5D2Mar 7, 2023
PRKAR1B1Aug 31, 2022
PRR121Mar 6, 2023
PUF601Mar 6, 2023
PURA2Jan 5, 2021
PUS72Aug 31, 2022
PYCR22Jan 5, 2021
RAC11Aug 31, 2022
REEP11Aug 31, 2022
RLIM1Jan 5, 2021
RMND12Jan 5, 2021
RNASEH2B2Jan 5, 2021
SATB21Mar 6, 2023
SCN2A2Mar 6, 2023
SEPSECS2Jan 5, 2021
SET1Jan 5, 2021
SETD1B2Mar 6, 2023
SETD53Mar 6, 2023
SHANK22Jan 5, 2021
SHANK32Mar 6, 2023
SLC1A21Aug 31, 2022
SMC1A1Mar 6, 2023
SMC31Mar 6, 2023
SNHG141Mar 6, 2023
SOX21Jan 5, 2021
SOX2-OT1Jan 5, 2021
SOX51Mar 6, 2023
SPEN1Aug 31, 2022
SREBF11Aug 31, 2022
STXBP12Mar 6, 2023
STXBP21Aug 31, 2022
SUCLG11Jan 5, 2021
SYNGAP13Mar 6, 2023
SYNGAP1-AS13Mar 6, 2023
TBL1XR11Jan 5, 2021
TCF41Aug 31, 2022
TDP21Mar 6, 2023
TFE31Jan 5, 2021
TLK21Mar 6, 2023
TNRC6B1Mar 6, 2023
TRAPPC41Jan 5, 2021
TRIO1Jan 5, 2021
TRPM32Mar 6, 2023
UBE3A1Mar 6, 2023
USH1C1Aug 31, 2022
USP71Jan 5, 2021
USP9X1Aug 31, 2022
VPS13B3Dec 5, 2023
WAC1Mar 6, 2023
WDR42Jan 5, 2021
WDR452Mar 6, 2023
WDR621Mar 6, 2023
YY12Aug 31, 2022
ZBTB181Mar 6, 2023
ZEB23Mar 6, 2023
ZMYND112Mar 6, 2023
ZNF2922Mar 6, 2023

Condition

NameSubmissionsLast Updated
8q24.3 microdeletion syndrome1Mar 6, 2023
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder2Mar 6, 2023
Angelman syndrome1Mar 6, 2023
Brain malformations with or without urinary tract defects1Mar 6, 2023
Bryant-Li-Bhoj neurodevelopmental syndrome 21Mar 6, 2023
Chromosome 2q32-q33 deletion syndrome1Mar 6, 2023
Coffin-Siris syndrome 12Mar 6, 2023
Cohen syndrome1Mar 6, 2023
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder1Mar 6, 2023
Congenital muscular hypertrophy-cerebral syndrome1Mar 6, 2023
Cornelia de Lange syndrome 31Mar 6, 2023
DeSanto-Shinawi syndrome due to WAC point mutation1Mar 6, 2023
Developmental and epileptic encephalopathy 941Mar 6, 2023
Developmental and epileptic encephalopathy, 112Mar 6, 2023
Developmental and epileptic encephalopathy, 41Mar 6, 2023
Developmental and epileptic encephalopathy, 421Mar 7, 2023
Developmental and epileptic encephalopathy, 431Mar 6, 2023
Developmental and epileptic encephalopathy, 71Mar 6, 2023
Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome1Mar 6, 2023
Global developmental delay1Aug 22, 2022
Global developmental delay with speech and behavioral abnormalities1Mar 6, 2023
Hereditary spastic paraplegia 461Mar 6, 2023
Hermansky-Pudlak syndrome 511May 2, 2017
Hermansky-Pudlak syndrome 92Mar 18, 2020
Hogue-Janssens syndrome 11Mar 7, 2023
Immunodeficiency 471Mar 6, 2023
Intellectual developmental disorder with dysmorphic facies and ptosis1Mar 6, 2023
Intellectual developmental disorder with macrocephaly, seizures, and speech delay1Mar 6, 2023
Intellectual developmental disorder with seizures and language delay1Mar 6, 2023
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities1Mar 6, 2023
Intellectual developmental disorder, autosomal dominant 641Mar 6, 2023
Intellectual disability1Aug 22, 2022
Intellectual disability, X-linked 1021Mar 7, 2023
Intellectual disability, autosomal dominant 131Mar 6, 2023
Intellectual disability, autosomal dominant 141Mar 6, 2023
Intellectual disability, autosomal dominant 202Mar 6, 2023
Intellectual disability, autosomal dominant 221Mar 6, 2023
Intellectual disability, autosomal dominant 302Mar 6, 2023
Intellectual disability, autosomal dominant 401Mar 6, 2023
Intellectual disability, autosomal dominant 52Mar 6, 2023
Intellectual disability, autosomal dominant 501Mar 6, 2023
Intellectual disability, autosomal dominant 532Mar 6, 2023
Intellectual disability, autosomal dominant 571Mar 6, 2023
Intellectual disability-epilepsy-extrapyramidal syndrome1Mar 6, 2023
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency2Mar 6, 2023
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome1Mar 6, 2023
Intellectual disability-severe speech delay-mild dysmorphism syndrome2Mar 6, 2023
KBG syndrome1Mar 6, 2023
Kabuki syndrome 11Mar 6, 2023
Kleefstra syndrome 11Mar 6, 2023
Kleefstra syndrome 21Mar 6, 2023
Lamb-Shaffer syndrome1Mar 6, 2023
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations1Mar 6, 2023
Mowat-Wilson syndrome1Mar 6, 2023
Neurodegeneration with brain iron accumulation 52Mar 6, 2023
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures1Mar 6, 2023
Neuroocular syndrome1Mar 6, 2023
Pettigrew syndrome1Mar 6, 2023
Phelan-McDermid syndrome1Mar 6, 2023
Propionic acidemia1Mar 6, 2023
Rett syndrome4Mar 6, 2023
Spinocerebellar ataxia, autosomal recessive 231Mar 6, 2023
Syndromic X-linked intellectual disability Claes-Jensen type1Mar 6, 2023
Temtamy syndrome1Mar 6, 2023
Tyrosinase-positive oculocutaneous albinism22Feb 21, 2023
Vissers-Bodmer syndrome1Mar 6, 2023
Weaver syndrome1Mar 6, 2023
White-Kernohan syndrome1Mar 6, 2023
Wiedemann-Steiner syndrome2Mar 6, 2023
X-linked Opitz G/BBB syndrome1Mar 7, 2023
not provided148Dec 5, 2023