Renal Tubulopathies and related disorders
Gene: SCNN1A
Single family reported with two affected individuals and a missense variant, some functional data to support pathogenicity.
Note bi-allelic variants in this gene are associated with Pseudohypoaldosteronism, type I.
Sources: Expert ReviewCreated: 7 Jul 2021, 9:50 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Liddle syndrome 3, MIM# 618126
Publications
LoF biallelic variants (missense and PTV) have been reported to cause pseudohypoaldosteronism (PMID: 31301676). However, a missense shown to result in GoF has been reported in a patient with Liddle syndrome 3 (PMID: 28710092).Created: 12 Feb 2020, 3:53 a.m. | Last Modified: 12 Feb 2020, 3:53 a.m.
Panel Version: 0.8
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
?Liddle syndrome 3 618126 AD; Bronchiectasis with or without elevated sweat chloride 2 613021 AD; Pseudohypoaldosteronism, type I 264350 AR.
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
gene: SCNN1A was added gene: SCNN1A was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green Mode of inheritance for gene: SCNN1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SCNN1A were set to 28710092; 31301676 Phenotypes for gene: SCNN1A were set to Bronchiectasis with or without elevated sweat chloride 2 613021 AD; Pseudohypoaldosteronism, type I 264350 AR.; ?Liddle syndrome 3 618126 AD