Skeletal dysplasia
Gene: SCNN1A

SCNN1A (sodium channel epithelial 1 alpha subunit)
EnsemblGeneIds (GRCh38): ENSG00000111319
EnsemblGeneIds (GRCh37): ENSG00000111319
OMIM: 600228, Gene2Phenotype
SCNN1A is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bi-allelic variants: LoF biallelic variants (missense and PTV) have been reported to cause pseudohypoaldosteronism (PMID: 31301676), well established gene disease association.

Mono-allelic variants:
Single family reported with Liddle syndrome, GoF postulated, two affected individuals
6 individuals reported with bronchiectasis with or without elevated sweat chloride, some individuals had single CFTR variants, digenic inheritance postulated. Some of these variants are present in population databases.

LIMITED evidence for association between mono-allelic variants and disease.
Created: 12 May 2021, 9:24 p.m. | Last Modified: 12 May 2021, 9:24 p.m.

Panel Version: 0.7605

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Liddle syndrome 3 618126, MIM# AD, MONDO:0029132; Bronchiectasis with or without elevated sweat chloride 2, MIM# 613021 AD, MONDO:0013087; Pseudohypoaldosteronism, type I, MIM# 264350 AR, MIM#0009917

Publications

Created: 12 May 2021, 9:24 p.m.
Last Modified: 12 May 2021, 9:24 p.m.
Panel version: Imported from Mendeliome panel version 0.7605

Details

Sources

Expert Review Green
Emory Genetics Laboratory
Victorian Clinical Genetics Services

OMIM

600228

Clinvar variants

Variants in SCNN1A

Penetrance

None

Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SCNN1A was added gene: SCNN1A was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory Mode of inheritance for gene: SCNN1A was set to

Skeletal dysplasia Gene: SCNN1A