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  3. SCNN1G
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Fetal anomalies

Gene: SCNN1G

Red List (low evidence)
SCNN1G (sodium channel epithelial 1 gamma subunit)
EnsemblGeneIds (GRCh38): ENSG00000166828
EnsemblGeneIds (GRCh37): ENSG00000166828
OMIM: 600761, Gene2Phenotype
SCNN1G is in 10 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

Red List (low evidence)

On hypertension, CF-like & renal panels. severe salt loss, hyperkalemia, hyponatremia, metabolic acidosis, hyperaldosteronism and hyperreninemia. No evidence of prenatal phenotype in papers. PMID:7633160 suggests pseudohypoaldosteronism can cause severe hydramnios but no genetic testing in study linking to gene. Suggest red.
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pseudohypoaldosteronism, type IB3, autosomal recessive, OMIM:620126

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Pseudohypoaldosteronism, type IB3, autosomal recessive, OMIM:620126
OMIM
600761
Clinvar variants
Variants in SCNN1G
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Aug 2024, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: SCNN1G was added gene: SCNN1G was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: SCNN1G was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCNN1G were set to 31522814; 11231969; 8640238; 7633160 Phenotypes for gene: SCNN1G were set to Pseudohypoaldosteronism, type IB3, autosomal recessive, OMIM:620126