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 |