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  2. Hydrops fetalis
  3. SCN5A
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Hydrops fetalis

Gene: SCN5A

Green List (high evidence)
SCN5A (sodium voltage-gated channel alpha subunit 5)
EnsemblGeneIds (GRCh38): ENSG00000183873
EnsemblGeneIds (GRCh37): ENSG00000183873
OMIM: 600163, Gene2Phenotype
SCN5A is in 16 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three families reported with severe perinatal presentation, including hydrops.
Sources: Expert Review
Created: 10 Sep 2021, 4:20 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Long QT syndrome 3 (MIM#603830)

Publications

Created: 10 Sep 2021, 4:20 a.m.

Panel version: 0.203

History Filter Activity

10 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: scn5a has been classified as Green List (High Evidence).

10 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: scn5a has been classified as Green List (High Evidence).

10 Sep 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SCN5A was added gene: SCN5A was added to Hydrops fetalis. Sources: Expert Review Mode of inheritance for gene: SCN5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCN5A were set to 22064211; 15184283; 19419784 Phenotypes for gene: SCN5A were set to Long QT syndrome 3 (MIM#603830) Review for gene: SCN5A was set to GREEN