Renal tubulopathies
Gene: SCNN1A
Comment on list classification: Changing rating from red to green as > 3 cases reported.Created: 5 Sep 2019, 8:36 p.m. | Last Modified: 5 Sep 2019, 8:36 p.m.
Panel Version: 1.149
Associated with Pseudohypoaldosteronism, type I #264350 in OMIM.
8 cases reported in OMIM (PMIDs 8589714 and 10586178).Created: 2 Sep 2019, 11:21 p.m. | Last Modified: 2 Sep 2019, 11:21 p.m.
Panel Version: 1.82
This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group; Gene Symbol submitted: SCNN1A; Suggested initial gene rating: green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided; Other Comments: AD inheritance for ?Liddle 3 (1 family only) and bronciectasisCreated: 3 Feb 2019, 11:32 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pseudohypoaldosteronism, type I, MIM 264350; ? Liddle syndrom 3, MIM 618126; Bronchiectasis with or without elevated sweat chloride 2 MIM 613021
Variants in this GENE are reported as part of current diagnostic practice
Gene: scnn1a has been classified as Green List (High Evidence).
Publications for gene: SCNN1A were set to
Mode of inheritance for gene: SCNN1A was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCNN1A were changed from to Pseudohypoaldosteronism, type I, 264350; ?Liddle syndrom 3, 618126; Bronchiectasis with or without elevated sweat chloride 2 613021
gene: SCNN1A was added gene: SCNN1A was added to Renal tubulopathies. Sources: NHS GMS Mode of inheritance for gene: SCNN1A was set to