Genetics and Prenatal Diagnosis Center
(The First Affiliated Hospital of Zhengzhou University)
General information
Genetics and Prenatal Diagnosis Center
The First Affiliated Hospital of Zhengzhou University
zhengzhou
China
Organization ID: 507584
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 79
Gene
| Gene | Submissions | Last Updated |
|---|
| AMPD2 | 2 | May 13, 2021 |
| ASXL2 | 1 | Nov 17, 2021 |
| ASXL3 | 1 | May 13, 2021 |
| ATP2B3 | 1 | May 13, 2021 |
| COG8 | 2 | May 13, 2021 |
| CREBBP | 1 | May 13, 2021 |
| DPM1 | 2 | May 13, 2021 |
| FOXP2 | 1 | May 13, 2021 |
| GAMT | 2 | May 13, 2021 |
| GLRA1 | 1 | May 13, 2021 |
| HNRNPH2 | 1 | May 13, 2021 |
| HPS1 | 2 | Feb 5, 2021 |
| HPS6 | 3 | Feb 5, 2021 |
| KCNQ2 | 1 | May 13, 2021 |
| KIF1A | 1 | May 13, 2021 |
| LOC102724058 | 1 | May 13, 2021 |
| LOC129930446 | 2 | May 13, 2021 |
| LOC130059304 | 1 | May 13, 2021 |
| LOC130062945 | 2 | May 13, 2021 |
| LOC130065345 | 1 | May 13, 2021 |
| LOC130066166 | 1 | May 13, 2021 |
| MCCC2 | 2 | May 13, 2021 |
| MECP2 | 3 | May 13, 2021 |
| MMACHC | 4 | May 13, 2021 |
| MMUT | 16 | Aug 25, 2020 |
| MPZL2 | 1 | May 13, 2021 |
| MTHFR | 2 | May 13, 2021 |
| NAPB | 1 | Sep 25, 2020 |
| PANK2 | 2 | May 13, 2021 |
| POMT1 | 2 | May 13, 2021 |
| PRMT7 | 2 | May 13, 2021 |
| RAI1 | 1 | May 13, 2021 |
| RPL36A-HNRNPH2 | 1 | May 13, 2021 |
| SCN1A | 1 | May 13, 2021 |
| SCN2A | 1 | May 13, 2021 |
| SLC16A2 | 1 | May 13, 2021 |
| SMN1 | 2 | Jun 15, 2020 |
| SOX5 | 1 | May 13, 2021 |
| STXBP1 | 1 | May 13, 2021 |
| TRIP12 | 1 | May 13, 2021 |
Condition
| Name | Submissions | Last Updated | | 3-methylcrotonyl-CoA carboxylase 2 deficiency | 2 | May 13, 2021 |
| Allan-Herndon-Dudley syndrome | 1 | May 13, 2021 |
| COG8-congenital disorder of glycosylation | 2 | May 13, 2021 |
| Childhood apraxia of speech | 1 | May 13, 2021 |
| Chromosome 15q26-qter deletion syndrome | 1 | May 13, 2021 |
| Clark-Baraitser syndrome | 1 | May 13, 2021 |
| Cobalamin C disease | 4 | May 13, 2021 |
| Congenital disorder of glycosylation type 1E | 2 | May 13, 2021 |
| Deficiency of guanidinoacetate methyltransferase | 2 | May 13, 2021 |
| Deletion of short arm of chromosome 18 | 1 | May 13, 2021 |
| Developmental and epileptic encephalopathy, 1 | 1 | Sep 25, 2020 |
| Developmental and epileptic encephalopathy, 11 | 1 | May 13, 2021 |
| Developmental and epileptic encephalopathy, 4 | 1 | May 13, 2021 |
| Developmental and epileptic encephalopathy, 7 | 1 | May 13, 2021 |
| Developmental delay with variable intellectual impairment and behavioral abnormalities | 1 | May 13, 2021 |
| DiGeorge syndrome | 2 | May 13, 2021 |
| Distal 10q deletion syndrome | 1 | May 13, 2021 |
| Distal monosomy 13q | 1 | May 13, 2021 |
| Hearing loss, autosomal recessive 111 | 1 | May 13, 2021 |
| Hereditary spastic paraplegia 2 | 1 | May 13, 2021 |
| Hermansky-Pudlak syndrome 1 | 2 | Feb 5, 2021 |
| Hermansky-Pudlak syndrome 6 | 3 | Feb 5, 2021 |
| Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 2 | May 13, 2021 |
| Hyperekplexia 1 | 1 | May 13, 2021 |
| Intellectual disability, X-linked, syndromic, Bain type | 1 | May 13, 2021 |
| Intellectual disability, autosomal dominant 9 | 1 | May 13, 2021 |
| Lamb-Shaffer syndrome | 1 | May 13, 2021 |
| Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 16 | Aug 25, 2020 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 | 2 | May 13, 2021 |
| Pelizaeus-Merzbacher disease | 1 | May 13, 2021 |
| Pigmentary pallidal degeneration | 2 | May 13, 2021 |
| Pontocerebellar hypoplasia type 9 | 2 | May 13, 2021 |
| Proximal 16p11.2 microdeletion syndrome | 2 | May 13, 2021 |
| Rett syndrome | 2 | May 13, 2021 |
| Rubinstein-Taybi syndrome due to CREBBP mutations | 1 | May 13, 2021 |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 1 | May 13, 2021 |
| Severe myoclonic epilepsy in infancy | 1 | May 13, 2021 |
| Severe neonatal-onset encephalopathy with microcephaly | 1 | May 13, 2021 |
| Shashi-Pena syndrome | 1 | Nov 17, 2021 |
| Short stature-brachydactyly-obesity-global developmental delay syndrome | 2 | May 13, 2021 |
| Smith-Magenis syndrome | 1 | May 13, 2021 |
| Syndromic X-linked intellectual disability Lubs type | 1 | May 13, 2021 |
| Werdnig-Hoffmann disease | 2 | Jun 15, 2020 |
| X-linked progressive cerebellar ataxia | 1 | May 13, 2021 |
| not provided | 2 | May 13, 2021 |
