TIDEX (University of British Columbia), TIDEX

General information

TIDEX, TIDEX
University of British Columbia
4480 Oak Street
Vancouver
British Columbia
Canada - V6H 3VN

Organization ID: 506168

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 50

Gene

GeneSubmissionsLast Updated
AKT31Aug 4, 2017
ASXL11Aug 4, 2017
ATP1A31Aug 4, 2017
ATP8A21Aug 4, 2017
CHRNA11Aug 4, 2017
CSTB1Aug 4, 2017
DGKZ2Aug 4, 2017
EHMT11Aug 4, 2017
EPHA41Aug 4, 2017
GCDH2Aug 4, 2017
GNAO11Aug 4, 2017
GOT24Jul 19, 2019
ITPA2Aug 4, 2017
KANK11Aug 4, 2017
KCNJ61Aug 4, 2017
KIDINS2201Aug 4, 2017
KMT2C1Aug 4, 2017
MAT1A2Aug 4, 2017
MECP22Aug 4, 2017
MED13L2Aug 4, 2017
NAA101Aug 4, 2017
NBAS2Aug 4, 2017
PAK31Aug 4, 2017
PALM2Aug 4, 2017
PLP11Aug 4, 2017
PLXNA21Aug 4, 2017
RAB9B1Aug 4, 2017
RANBP22Aug 4, 2017
SCN3A1Aug 4, 2017
SPAST2Apr 12, 2017
TBCK2Aug 4, 2017
TCF41Aug 4, 2017
TMEM672Aug 4, 2017
TUBB4A1Aug 4, 2017
WDR452Aug 4, 2017

Condition

NameSubmissionsLast Updated
Bohring-Opitz syndrome1Aug 4, 2017
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 41Aug 4, 2017
Cerebral palsy, spastic quadriplegic, 21Aug 4, 2017
Dystonia 121Aug 4, 2017
Early infantile epileptic encephalopathy 171Aug 4, 2017
Early infantile epileptic encephalopathy with suppression bursts4Jul 19, 2019
Encephalopathy, acute, infection-induced, 3, suceptibility to2Aug 4, 2017
Epileptic encephalopathy, early infantile, 352Aug 4, 2017
Glutaric aciduria, type 12Aug 4, 2017
Hepatic methionine adenosyltransferase deficiency2Aug 4, 2017
Hypotonia, infantile, with psychomotor retardation and characteristic facies 32Aug 4, 2017
Joubert syndrome with hepatic defect2Aug 4, 2017
Keppen-Lubinsky syndrome1Aug 4, 2017
Kleefstra syndrome 11Aug 4, 2017
Leukodystrophy, hypomyelinating, 61Aug 4, 2017
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 21Aug 4, 2017
Mental retardation 30, X-linked1Aug 4, 2017
Mental retardation and distinctive facial features with or without cardiac defects2Aug 4, 2017
Myasthenic syndrome, slow-channel congenital1Aug 4, 2017
N-terminal acetyltransferase deficiency1Aug 4, 2017
Neurodegeneration with brain iron accumulation 52Aug 4, 2017
Pelizaeus-Merzbacher disease1Aug 4, 2017
Pitt-Hopkins syndrome1Aug 4, 2017
Rett syndrome2Aug 4, 2017
Short stature, optic nerve atrophy, and Pelger-Huet anomaly2Aug 4, 2017
Spastic paraplegia 4, autosomal dominant2Apr 12, 2017
Spastic paraplegia, intellectual disability, nystagmus, and obesity1Aug 4, 2017
Unverricht-Lundborg syndrome1Aug 4, 2017
atypical cerebral palsy8Aug 4, 2017
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