The Laboratory of Genetics and Metabolism
(Hunan Children’s Hospital), LOGM
General information
The Laboratory of Genetics and Metabolism, LOGM
Hunan Children’s Hospital
Ziyuan Road, 86#
Changsha
Hunan
China - 410007
Organization ID: 507019
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 178
Gene
| Gene | Submissions | Last Updated |
|---|
| ACAT1 | 4 | Jun 16, 2021 |
| AGL | 1 | Jun 16, 2021 |
| AQP5 | 1 | Jun 16, 2021 |
| ARX | 1 | Jun 16, 2021 |
| CBX2 | 1 | Feb 2, 2021 |
| COG4 | 2 | Jun 16, 2021 |
| CPS1 | 2 | Jun 16, 2021 |
| CRYGC | 1 | Feb 11, 2022 |
| DNAH11 | 2 | Jun 16, 2021 |
| ECE1 | 1 | Jun 16, 2021 |
| IDH1 | 1 | Jun 16, 2021 |
| INVS | 1 | Jun 16, 2021 |
| LOC100507443 | 1 | Feb 11, 2022 |
| MARS1 | 2 | Jun 16, 2021 |
| MECOM | 7 | Jan 16, 2022 |
| MVP-DT | 1 | Jun 16, 2021 |
| MYH6 | 1 | Jun 16, 2021 |
| MYO5B | 1 | Jul 27, 2021 |
| NBAS | 2 | Jun 16, 2021 |
| NF1 | 45 | Nov 11, 2021 |
| NOTCH2 | 1 | Mar 5, 2021 |
| PARN | 1 | Jun 16, 2021 |
| PHOX2B | 1 | Jun 16, 2021 |
| PLCG2 | 1 | Jun 16, 2021 |
| POC1A | 2 | Feb 9, 2021 |
| PREPL | 2 | Dec 16, 2019 |
| PRRT2 | 1 | Jun 16, 2021 |
| SLC3A1 | 13 | Dec 16, 2019 |
| SLC7A9 | 8 | Dec 16, 2019 |
| SMAD6 | 70 | Jun 29, 2021 |
| TBCK | 1 | Jun 16, 2021 |
| TOR1A | 1 | Jun 16, 2021 |
| VWF | 1 | Jun 16, 2021 |
| ZEB2 | 1 | Jun 16, 2021 |
Condition
| Name | Submissions | Last Updated | | Abnormal axial skeleton morphology | 2 | Jun 29, 2021 |
| Alagille syndrome due to a NOTCH2 point mutation | 1 | Mar 5, 2021 |
| Atrial septal defect 3 | 1 | Jun 16, 2021 |
| Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | 1 | Jun 16, 2021 |
| Bicuspid aortic valve | 1 | Jun 29, 2021 |
| COG4-congenital disorder of glycosylation | 2 | Jun 16, 2021 |
| Cafe au lait spots, multiple | 3 | Nov 11, 2021 |
| Cataract 2, multiple types | 1 | Feb 11, 2022 |
| Congenital central hypoventilation | 1 | Jun 16, 2021 |
| Congenital hyperammonemia, type I | 2 | Jun 16, 2021 |
| Congenital microvillous atrophy | 1 | Jul 27, 2021 |
| Corpus callosum agenesis-abnormal genitalia syndrome | 1 | Jun 16, 2021 |
| Cystine urolithiasis | 21 | Dec 16, 2019 |
| Deficiency of acetyl-CoA acetyltransferase | 4 | Jun 16, 2021 |
| Disorder of sexual differentiation | 1 | Feb 2, 2021 |
| Early-onset generalized limb-onset dystonia | 1 | Jun 16, 2021 |
| Frontal bossing | 2 | Jun 29, 2021 |
| Glycogen storage disease type III | 1 | Jun 16, 2021 |
| Heart, malformation of | 3 | Jun 29, 2021 |
| Hirschsprung disease, cardiac defects, and autonomic dysfunction | 1 | Jun 16, 2021 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 1 | Jun 16, 2021 |
| Infantile liver failure syndrome 2 | 2 | Jun 16, 2021 |
| Infantile nephronophthisis | 1 | Jun 16, 2021 |
| Mowat-Wilson syndrome | 1 | Jun 16, 2021 |
| Neurofibromatosis, type 1 | 39 | Sep 22, 2019 |
| Palmoplantar keratoderma, Bothnian type | 1 | Jun 16, 2021 |
| Paroxysmal extreme pain disorder | 1 | Jun 16, 2021 |
| Plagiocephaly | 2 | Jun 29, 2021 |
| Polydactyly | 2 | Jun 29, 2021 |
| Premature closure of fontanelles | 2 | Jun 29, 2021 |
| Primary ciliary dyskinesia 7 | 2 | Jun 16, 2021 |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 | 1 | Jun 16, 2021 |
| Radioulnar synostosis | 77 | Jan 16, 2022 |
| Seizures, benign familial infantile, 2 | 1 | Jun 16, 2021 |
| Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency | 2 | Jun 16, 2021 |
| Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | 2 | Feb 9, 2021 |
| Tibial pseudarthrosis | 45 | Nov 11, 2021 |
| von Willebrand disease type 3 | 1 | Jun 16, 2021 |
