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Prepair 1000+

Gene: SCNN1A

Green List (high evidence)

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

1 review

Lauren Thomas (VIctorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association. Childhood onset, potentially lethal salt wasting condition characterised by excess loss of salt in the urine and high concentrations of sodium in sweat, stool, and saliva. Treatment for this condition involves aggressive salt replacement and control of hyperkalemia.

HGNC approved symbol/name: SCNN1A
Is the phenotype(s) severe and onset <18yo? Yes
Treatments available: Yes, supplementary sodium, but not mineralocorticoids
Known technical challenges? No
Gene reported in 3 independent families: Yes

NOTE: Limited evidence for association between mono-allelic variants and disease (bronchiectasis with or without elevated sweat chloride 2, MIM# 613021; Liddle syndrome 3, MIM# 618126)
Created: 3 Mar 2025, 5:45 a.m. | Last Modified: 3 Mar 2025, 5:45 a.m.
Panel Version: 1.1566

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pseudohypoaldosteronism, type IB1, autosomal recessive, MIM# 264350

Publications

History Filter Activity

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SCNN1A was added gene: SCNN1A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SCNN1A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SCNN1A were set to Pseudohypoaldosteronism, type I, 264350 (3)