Medical Genetic Institute of Henan Province
(Henan Provincial People’s Hospital)
General information
Medical Genetic Institute of Henan Province
Henan Provincial People’s Hospital
No. 7 Weiwu Road
Zhengzhou
Henan
China - 450003
Organization ID: 505825
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 28
Gene
| Gene | Submissions | Last Updated |
|---|
| ARID1B | 1 | Jan 20, 2022 |
| BRAF | 1 | Jan 20, 2022 |
| BRWD3 | 1 | Jan 20, 2022 |
| CC2D2A | 2 | Jan 20, 2022 |
| CHD2 | 1 | Jan 20, 2022 |
| CLIC2 | 1 | Jan 20, 2022 |
| DLG3 | 1 | Feb 14, 2022 |
| DLG3-AS1 | 1 | Feb 14, 2022 |
| DSCAML1 | 1 | Jan 21, 2022 |
| FOXO4 | 1 | Jan 21, 2022 |
| HCFC1 | 1 | Jan 20, 2022 |
| HSPG2 | 1 | Jan 20, 2022 |
| KAT6A | 1 | Jan 20, 2022 |
| KDM5C | 1 | Jan 21, 2022 |
| KLHL15 | 1 | Jan 21, 2022 |
| MAF | 1 | Jan 20, 2022 |
| MECP2 | 1 | Jan 20, 2022 |
| MIP | 1 | Feb 21, 2017 |
| NFIX | 2 | Jan 20, 2022 |
| OGT | 1 | Jan 20, 2022 |
| TCF4 | 1 | Jan 20, 2022 |
| TPP1 | 2 | Jan 20, 2022 |
| TREX2 | 1 | Jan 21, 2022 |
| TSEN2 | 2 | Jan 20, 2022 |
| WWOX | 2 | Jan 20, 2022 |
Condition
| Name | Submissions | Last Updated | | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 1 | Jan 20, 2022 |
| Cardio-facio-cutaneous syndrome | 1 | Jan 20, 2022 |
| Cataract 15 multiple types | 1 | Feb 21, 2017 |
| Coffin-Siris syndrome 1 | 1 | Jan 20, 2022 |
| Developmental and epileptic encephalopathy, 28 | 1 | Jan 20, 2022 |
| Intellectual disability | 3 | Jan 21, 2022 |
| Intellectual disability, X-linked 103 | 1 | Jan 21, 2022 |
| Intellectual disability, X-linked 106 | 1 | Jan 20, 2022 |
| Intellectual disability, X-linked 90 | 1 | Feb 14, 2022 |
| Intellectual disability, X-linked 93 | 1 | Jan 20, 2022 |
| Malan overgrowth syndrome | 2 | Jan 20, 2022 |
| Meckel-Gruber syndrome | 2 | Jan 20, 2022 |
| Methylmalonic acidemia with homocystinuria, type cblX | 1 | Jan 20, 2022 |
| Myoclonic-astatic epilepsy | 1 | Jan 20, 2022 |
| Neurodevelopmental disorders | 1 | Jan 20, 2022 |
| Neuronal ceroid lipofuscinosis 2 | 2 | Jan 20, 2022 |
| Pitt-Hopkins syndrome | 1 | Jan 20, 2022 |
| Pontocerebellar hypoplasia type 2B | 2 | Jan 20, 2022 |
| Rett syndrome | 1 | Jan 20, 2022 |
| Schwartz-Jampel syndrome | 1 | Jan 20, 2022 |
| Syndromic X-linked intellectual disability Claes-Jensen type | 1 | Jan 21, 2022 |
| X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome | 1 | Jan 20, 2022 |
