Pediatric Department
(Xiangya Hospital, Central South University)
General information
Pediatric Department
Xiangya Hospital, Central South University
Changsha
China - 410008
Organization ID: 507878
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 99
Gene
| Gene | Submissions | Last Updated |
|---|
| AARS2 | 2 | Dec 12, 2022 |
| ACAD9 | 2 | Dec 12, 2022 |
| ADNP | 1 | Sep 6, 2023 |
| AIFM1 | 1 | Dec 12, 2022 |
| ASXL3 | 1 | Sep 6, 2023 |
| CACNA1A | 6 | May 20, 2023 |
| CACNA1C | 3 | May 20, 2023 |
| CARS2 | 2 | Dec 12, 2022 |
| CDKL5 | 4 | Sep 6, 2023 |
| CFAP92 | 1 | Dec 12, 2022 |
| CHD2 | 1 | Sep 6, 2023 |
| CHRNB1 | 1 | Dec 12, 2022 |
| COQ4 | 2 | Dec 12, 2022 |
| DCX | 1 | Sep 6, 2023 |
| DNM1L | 1 | Dec 12, 2022 |
| DYRK1A | 1 | Sep 6, 2023 |
| ETFDH | 2 | Dec 12, 2022 |
| GFM1 | 2 | Dec 12, 2022 |
| GTPBP3 | 4 | Dec 12, 2022 |
| HIBCH | 4 | Dec 12, 2022 |
| HSD17B10 | 1 | Dec 12, 2022 |
| LIPT1 | 2 | Dec 12, 2022 |
| LOC102724058 | 2 | Sep 6, 2023 |
| LOC130065433 | 1 | Dec 12, 2022 |
| MECP2 | 2 | Sep 6, 2023 |
| MED13L | 2 | Sep 6, 2023 |
| MITD1 | 2 | Dec 12, 2022 |
| MT-ATP6 | 3 | Dec 12, 2022 |
| MT-CO2 | 1 | Dec 12, 2022 |
| MT-ND1 | 1 | Dec 4, 2022 |
| MT-ND3 | 1 | Dec 12, 2022 |
| MT-ND4 | 1 | Dec 12, 2022 |
| MT-TL1 | 1 | Dec 12, 2022 |
| NAXE | 2 | Dec 12, 2022 |
| NDUFAF5 | 2 | Dec 12, 2022 |
| OPA3 | 1 | Dec 4, 2022 |
| PANK2 | 1 | Dec 12, 2022 |
| PDHB | 1 | Dec 4, 2022 |
| POGZ | 2 | Sep 6, 2023 |
| POLG | 2 | Dec 12, 2022 |
| POLGARF | 2 | Dec 12, 2022 |
| POLR1C | 2 | Dec 12, 2022 |
| RAB33A | 1 | Dec 12, 2022 |
| SCN1A | 7 | Sep 6, 2023 |
| SCN2A | 2 | Sep 6, 2023 |
| SETBP1 | 1 | Sep 6, 2023 |
| SI | 2 | Nov 10, 2023 |
| SLC6A1 | 1 | Sep 6, 2023 |
| SLC6A1-AS1 | 1 | Sep 6, 2023 |
| STXBP1 | 15 | Sep 30, 2021 |
| SYNGAP1 | 2 | Sep 6, 2023 |
| SYNGAP1-AS1 | 2 | Sep 6, 2023 |
| TWNK | 1 | Dec 12, 2022 |
| WARS2 | 1 | Dec 4, 2022 |
| YARS2 | 1 | Dec 12, 2022 |
Condition
| Name | Submissions | Last Updated | | ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 1 | Sep 6, 2023 |
| Acyl-CoA dehydrogenase 9 deficiency | 2 | Dec 12, 2022 |
| Beta-hydroxyisobutyryl-CoA deacylase deficiency | 3 | Dec 12, 2022 |
| Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 2 | Sep 6, 2023 |
| Combined oxidative phosphorylation defect type 23 | 2 | Dec 12, 2022 |
| DYRK1A-related intellectual disability syndrome | 1 | Sep 6, 2023 |
| Developmental and epileptic encephalopathy 94 | 1 | Sep 6, 2023 |
| Developmental and epileptic encephalopathy, 11 | 2 | Sep 6, 2023 |
| Developmental and epileptic encephalopathy, 2 | 4 | Sep 6, 2023 |
| Developmental and epileptic encephalopathy, 4 | 15 | Sep 30, 2021 |
| Developmental and epileptic encephalopathy, 42 | 4 | May 20, 2023 |
| Developmental and epileptic encephalopathy, 6 | 2 | Sep 6, 2023 |
| Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | 1 | Dec 12, 2022 |
| Episodic ataxia type 2 | 2 | May 20, 2023 |
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | 2 | Dec 12, 2022 |
| Intellectual disability, autosomal dominant 29 | 1 | Sep 6, 2023 |
| Intellectual disability, autosomal dominant 5 | 2 | Sep 6, 2023 |
| Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 2 | Sep 6, 2023 |
| Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 3 | Dec 12, 2022 |
| Leber optic atrophy | 1 | Dec 12, 2022 |
| Leigh syndrome | 5 | Dec 12, 2022 |
| Lissencephaly type 1 due to doublecortin gene mutation | 1 | Sep 6, 2023 |
| Mitochondrial complex 1 deficiency, nuclear type 16 | 2 | Dec 12, 2022 |
| Myoclonic-astatic epilepsy | 1 | Sep 6, 2023 |
| Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | 2 | Dec 12, 2022 |
| Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | 3 | May 20, 2023 |
| Pigmentary pallidal degeneration | 1 | Dec 12, 2022 |
| Rett syndrome | 2 | Sep 6, 2023 |
| See cases | 21 | Dec 12, 2022 |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 1 | Sep 6, 2023 |
| Severe myoclonic epilepsy in infancy | 5 | Sep 6, 2023 |
| Sucrase-isomaltase deficiency | 2 | Nov 10, 2023 |
