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: 442

Gene

GeneSubmissionsLast Updated
ADGRV13Aug 28, 2021
ALDH18A11Nov 14, 2020
ALS28Nov 14, 2020
AP4B12Nov 14, 2020
AP4B1-AS12Nov 14, 2020
AP5Z16Nov 14, 2020
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
HNRNPUL2-BSCL21Nov 14, 2020
HSPD11Nov 14, 2020
INCA12Nov 14, 2020
KCNIP11Aug 28, 2021
KIF1A35Nov 14, 2020
KIF1C4Nov 14, 2020
KIF5A22Mar 2, 2021
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
SLC33A11Nov 14, 2020
SPART1Nov 14, 2020
SPAST116Nov 14, 2020
SPG1132Nov 14, 2020
SPG211Nov 14, 2020
SPG743Nov 14, 2020
VCP1Nov 14, 2020
WASHC58Nov 14, 2020
WASHC5-AS12Nov 14, 2020
ZFYVE269Nov 14, 2020

Condition

NameSubmissionsLast Updated
Amyotrophic lateral sclerosis type 41Nov 14, 2020
Ataxia, spastic, 2, autosomal recessive4Nov 14, 2020
Charcot-Marie-Tooth disease, axonal, type 2u2Nov 14, 2020
Charlevoix-Saguenay spastic ataxia22Nov 14, 2020
Hereditary spastic paraplegia3Nov 14, 2020
Hereditary spastic paraplegia 1020Mar 2, 2021
Hereditary spastic paraplegia 131Nov 14, 2020
Hereditary spastic paraplegia 157Nov 14, 2020
Hereditary spastic paraplegia 183Nov 14, 2020
Hereditary spastic paraplegia 21Nov 14, 2020
Hereditary spastic paraplegia 264Nov 14, 2020
Hereditary spastic paraplegia 393Nov 14, 2020
Hereditary spastic paraplegia 3A15Nov 14, 2020
Hereditary spastic paraplegia 5A16Nov 14, 2020
Hereditary spastic paraplegia 62Nov 14, 2020
Hereditary spastic paraplegia 743Nov 14, 2020
Hereditary spastic paraplegia 87Nov 14, 2020
Hereditary spastic paraplegia 9A1Nov 14, 2020
Idiopathic generalized epilepsy4Aug 28, 2021
Infantile-onset ascending hereditary spastic paralysis8Nov 14, 2020
Mast syndrome1Nov 14, 2020
Oculodentodigital dysplasia1Nov 14, 2020
Spastic paraplegia48Nov 14, 2020
Spastic paraplegia 11, autosomal recessive34Nov 14, 2020
Spastic paraplegia 171Nov 14, 2020
Spastic paraplegia 28, autosomal recessive3Nov 14, 2020
Spastic paraplegia 30, autosomal recessive28Nov 14, 2020
Spastic paraplegia 31, autosomal dominant16Mar 2, 2021
Spastic paraplegia 354Nov 14, 2020
Spastic paraplegia 4, autosomal dominant102Nov 14, 2020
Spastic paraplegia 46, autosomal recessive2Nov 14, 2020
Spastic paraplegia 47, autosomal recessive2Nov 14, 2020
Spastic paraplegia 48, autosomal recessive6Nov 14, 2020
Spastic paraplegia 54, autosomal recessive6Nov 14, 2020
Spastic paraplegia 56, autosomal recessive6Nov 14, 2020
Spastic paraplegia 72, autosomal recessive1Nov 14, 2020
Spastic paraplegia 76, autosomal recessive13Nov 10, 2020
Troyer syndrome1Nov 14, 2020
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