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Fetal anomalies

Gene: SCNN1G

Green List (high evidence)

SCNN1G (sodium channel epithelial 1 gamma subunit)
EnsemblGeneIds (GRCh38): ENSG00000166828
EnsemblGeneIds (GRCh37): ENSG00000166828
OMIM: 600761, Gene2Phenotype
SCNN1G is in 9 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

I don't know

PMID 8640238 - same 3′ splice site mutation in SCNN1G identified in 3 unrelated families from the Indian subcontinent presenting with severe generalised PHA ?founder mutation

PMID 11231969 - compound het in Japanese child diagnosed as neonate

PMID 31522814 - homozygous variant identified in neonate presenting with nephropathy

PMID 7633160 (1995) - PHA reported as likely cause of severe polyhydramnios in 5 patients from 3 unrelated families - not genotyped.

SCNN1G related PHA rare diagnosis, possible to present as severe polyhydramnios. Early diagnosis beneficial as PHA can be a life-threatening condition in the neonatal period with therapeutic options available.
Sources: Literature
Created: 6 Dec 2021, 5:36 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pseudohypoaldosteronism, type I - MIM#264350

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Pseudohypoaldosteronism, type I - MIM#264350
OMIM
600761
Clinvar variants
Variants in SCNN1G
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: scnn1g has been classified as Green List (High Evidence).

6 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: scnn1g has been classified as Amber List (Moderate Evidence).

6 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: scnn1g has been classified as Amber List (Moderate Evidence).

6 Dec 2021, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: SCNN1G was added gene: SCNN1G was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SCNN1G was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCNN1G were set to 8640238; 11231969; 31522814; 7633160 Phenotypes for gene: SCNN1G were set to Pseudohypoaldosteronism, type I - MIM#264350 Review for gene: SCNN1G was set to AMBER