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
Gene | Submissions | Last Updated |
---|
AKT3 | 1 | Aug 4, 2017 |
ASXL1 | 1 | Aug 4, 2017 |
ATP1A3 | 1 | Aug 4, 2017 |
ATP8A2 | 1 | Aug 4, 2017 |
CHRNA1 | 1 | Aug 4, 2017 |
CSTB | 1 | Aug 4, 2017 |
DGKZ | 2 | Aug 4, 2017 |
EHMT1 | 1 | Aug 4, 2017 |
EPHA4 | 1 | Aug 4, 2017 |
GCDH | 2 | Aug 4, 2017 |
GNAO1 | 1 | Aug 4, 2017 |
GOT2 | 4 | Jul 19, 2019 |
ITPA | 2 | Aug 4, 2017 |
KANK1 | 1 | Aug 4, 2017 |
KCNJ6 | 1 | Aug 4, 2017 |
KCNJ6-AS1 | 1 | Aug 4, 2017 |
KIDINS220 | 1 | Aug 4, 2017 |
KMT2C | 1 | Aug 4, 2017 |
LOC126862363 | 1 | Jul 19, 2019 |
LOC130066788 | 1 | Aug 4, 2017 |
MAT1A | 2 | Aug 4, 2017 |
MECP2 | 2 | Aug 4, 2017 |
MED13L | 2 | Aug 4, 2017 |
NAA10 | 1 | Aug 4, 2017 |
NBAS | 2 | Aug 4, 2017 |
PAK3 | 1 | Aug 4, 2017 |
PALM | 2 | Aug 4, 2017 |
PLP1 | 1 | Aug 4, 2017 |
PLXNA2 | 1 | Aug 4, 2017 |
RAB9B | 1 | Aug 4, 2017 |
RANBP2 | 2 | Aug 4, 2017 |
SCN3A | 1 | Aug 4, 2017 |
SPAST | 2 | Apr 12, 2017 |
TBCK | 2 | Aug 4, 2017 |
TCF4 | 1 | Aug 4, 2017 |
TMEM67 | 2 | Aug 4, 2017 |
TUBB4A | 1 | Aug 4, 2017 |
WDR45 | 2 | Aug 4, 2017 |
Condition
Name | Submissions | Last Updated | Bohring-Opitz syndrome | 1 | Aug 4, 2017 |
COACH syndrome 1 | 2 | Aug 4, 2017 |
Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 2 | Aug 4, 2017 |
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 | 1 | Aug 4, 2017 |
Cerebral palsy, spastic quadriplegic, 2 | 1 | Aug 4, 2017 |
Developmental and epileptic encephalopathy, 17 | 1 | Aug 4, 2017 |
Developmental and epileptic encephalopathy, 35 | 2 | Aug 4, 2017 |
Dystonia 12 | 1 | Aug 4, 2017 |
Early infantile epileptic encephalopathy with suppression bursts | 4 | Jul 19, 2019 |
Familial acute necrotizing encephalopathy | 2 | Aug 4, 2017 |
Glutaric aciduria, type 1 | 2 | Aug 4, 2017 |
Hepatic methionine adenosyltransferase deficiency | 2 | Aug 4, 2017 |
Hereditary spastic paraplegia 4 | 2 | Apr 12, 2017 |
Hypomyelinating leukodystrophy 6 | 1 | Aug 4, 2017 |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 2 | Aug 4, 2017 |
Intellectual disability, X-linked 30 | 1 | Aug 4, 2017 |
Keppen-Lubinsky syndrome | 1 | Aug 4, 2017 |
Kleefstra syndrome 1 | 1 | Aug 4, 2017 |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | 1 | Aug 4, 2017 |
Myasthenic syndrome, slow-channel congenital | 1 | Aug 4, 2017 |
Neurodegeneration with brain iron accumulation 5 | 2 | Aug 4, 2017 |
Ogden syndrome | 1 | Aug 4, 2017 |
Pelizaeus-Merzbacher disease | 1 | Aug 4, 2017 |
Pitt-Hopkins syndrome | 1 | Aug 4, 2017 |
Rett syndrome | 2 | Aug 4, 2017 |
Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome | 2 | Aug 4, 2017 |
Spastic paraplegia, intellectual disability, nystagmus, and obesity | 1 | Aug 4, 2017 |
Unverricht-Lundborg syndrome | 1 | Aug 4, 2017 |
atypical cerebral palsy | 8 | Aug 4, 2017 |