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Paris Brain Institute (Inserm - ICM)

General information

Paris Brain Institute
Inserm - ICM
47 boulevard de l'Hopital
Paris
France - 75013
https://institutducerveau-icm.org/en/
Organization ID: 507826

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 449

Gene

GeneSubmissionsLast Updated
ADGRV16Aug 28, 2021
ALDH18A11Nov 14, 2020
ALS28Nov 14, 2020
AP4B12Nov 14, 2020
AP4B1-AS12Nov 14, 2020
AP5Z16Dec 13, 2023
ARSI1Nov 14, 2020
ATL115Nov 14, 2020
B4GALNT14Nov 14, 2020
BICD23Nov 14, 2020
BSCL21Nov 14, 2020
CAPN113Nov 10, 2020
CPT1C2Nov 14, 2020
CYP2U16Nov 14, 2020
CYP2U1-AS11Nov 14, 2020
CYP7B120Nov 14, 2020
DDHD13Nov 14, 2020
DDHD26Nov 14, 2020
ERLIN26Nov 14, 2020
FA2H4Nov 14, 2020
GBA26Nov 14, 2020
GJA11Nov 14, 2020
HACE11Aug 3, 2021
HNRNPUL2-BSCL21Nov 14, 2020
HSPD11Nov 14, 2020
INCA12Nov 14, 2020
KCNIP11Aug 28, 2021
KIF1A35Nov 14, 2020
KIF1C4Nov 14, 2020
KIF5A22Mar 2, 2021
LOC1268612361Nov 10, 2020
LOC1300567091Nov 14, 2020
LOC1300569731Nov 14, 2020
LOC1300593941Nov 14, 2020
LOC1300598182Nov 14, 2020
MARS12Nov 14, 2020
NIPA13Nov 14, 2020
PLP11Nov 14, 2020
PNPLA63Nov 14, 2020
RAB9B1Nov 14, 2020
REEP117Mar 2, 2021
REEP21Nov 14, 2020
SACS22Nov 14, 2020
SETX2Nov 14, 2020
SLC19A31Aug 3, 2021
SLC33A11Nov 14, 2020
SPART1Nov 14, 2020
SPAST116Nov 14, 2020
SPG1132Nov 14, 2020
SPG211Nov 14, 2020
SPG743Nov 14, 2020
TCF201Aug 3, 2021
VCP1Nov 14, 2020
VRK11Aug 3, 2021
WASHC58Nov 14, 2020
WASHC5-AS12Nov 14, 2020
ZFYVE269Nov 14, 2020

Condition

NameSubmissionsLast Updated
Amyotrophic lateral sclerosis type 41Nov 14, 2020
Autosomal recessive spastic paraplegia type 7613Nov 10, 2020
Charcot-Marie-Tooth disease axonal type 2U2Nov 14, 2020
Charlevoix-Saguenay spastic ataxia22Nov 14, 2020
Developmental delay with variable intellectual impairment and behavioral abnormalities1Aug 3, 2021
Hereditary spastic paraplegia3Nov 14, 2020
Hereditary spastic paraplegia 1020Mar 2, 2021
Hereditary spastic paraplegia 1134Nov 14, 2020
Hereditary spastic paraplegia 131Nov 14, 2020
Hereditary spastic paraplegia 157Nov 14, 2020
Hereditary spastic paraplegia 171Nov 14, 2020
Hereditary spastic paraplegia 183Nov 14, 2020
Hereditary spastic paraplegia 21Nov 14, 2020
Hereditary spastic paraplegia 264Nov 14, 2020
Hereditary spastic paraplegia 283Nov 14, 2020
Hereditary spastic paraplegia 3028Nov 14, 2020
Hereditary spastic paraplegia 3116Mar 2, 2021
Hereditary spastic paraplegia 354Nov 14, 2020
Hereditary spastic paraplegia 393Nov 14, 2020
Hereditary spastic paraplegia 3A15Nov 14, 2020
Hereditary spastic paraplegia 4102Nov 14, 2020
Hereditary spastic paraplegia 462Nov 14, 2020
Hereditary spastic paraplegia 472Nov 14, 2020
Hereditary spastic paraplegia 486Dec 13, 2023
Hereditary spastic paraplegia 546Nov 14, 2020
Hereditary spastic paraplegia 566Nov 14, 2020
Hereditary spastic paraplegia 5A16Nov 14, 2020
Hereditary spastic paraplegia 62Nov 14, 2020
Hereditary spastic paraplegia 743Nov 14, 2020
Hereditary spastic paraplegia 721Nov 14, 2020
Hereditary spastic paraplegia 87Nov 14, 2020
Hereditary spastic paraplegia 9A1Nov 14, 2020
Idiopathic generalized epilepsy7Aug 28, 2021
Infantile-onset ascending hereditary spastic paralysis8Nov 14, 2020
Mast syndrome1Nov 14, 2020
Oculodentodigital dysplasia1Nov 14, 2020
Pontocerebellar hypoplasia type 1A1Aug 3, 2021
Spastic ataxia 24Nov 14, 2020
Spastic paraplegia49Aug 3, 2021
Spastic paraplegia-severe developmental delay-epilepsy syndrome1Aug 3, 2021
Troyer syndrome1Nov 14, 2020