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 |
