Fetal hydrops
Gene: SCN5A
SCN5A (sodium voltage-gated channel alpha subunit 5)
EnsemblGeneIds (GRCh38): ENSG00000183873
EnsemblGeneIds (GRCh37): ENSG00000183873
OMIM: 600163, Gene2Phenotype
SCN5A is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000183873
EnsemblGeneIds (GRCh37): ENSG00000183873
OMIM: 600163, Gene2Phenotype
SCN5A is in 14 panels
1 review
Irina Adamena (Children's Clinical University Hospital)
Gene with strong evidence for fetal hydrops (PMID: 33082562)
Sources: LiteratureCreated: 11 Apr 2024, 3:52 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Nonimmune hydrops fetalis
Publications
- PMID: 33082562
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Phenotypes
-
- Nonimmune hydrops fetalis
- OMIM
- 600163
- Clinvar variants
- Variants in SCN5A
- Penetrance
- None
- Publications
-
- PMID: 33082562
- Panels with this gene
-
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Dilated and arrhythmogenic cardiomyopathy
- Short QT syndrome
- Progressive cardiac conduction disease
- Dilated Cardiomyopathy and conduction defects
- Paediatric or syndromic cardiomyopathy
- Long QT syndrome
- Fetal anomalies
- Brugada syndrome and cardiac sodium channel disease
- COVID-19 research
- Idiopathic ventricular fibrillation
- Fetal hydrops
- Arrhythmogenic right ventricular cardiomyopathy
History Filter Activity
11 Apr 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Irina Adamena (Children's Clinical University Hospital)gene: SCN5A was added gene: SCN5A was added to Fetal hydrops. Sources: Literature Mode of inheritance for gene: SCN5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCN5A were set to PMID: 33082562 Phenotypes for gene: SCN5A were set to Nonimmune hydrops fetalis Review for gene: SCN5A was set to GREEN