Renal tubulopathiesGene: SCNN1G
Comment on mode of inheritance: Updating the MOI as both Pseudohypoaldosteronism, type I (biallelic) and Liddle syndrome 2 (monoallelic) are relevant to the panel.
Created: 28 Nov 2019, 5:03 p.m. | Last Modified: 28 Nov 2019, 5:03 p.m.
Panel Version: 1.194
Comment on list classification: Changing rating from Amber to Green as the Liddle syndrome cases are relevant to this panel.
Created: 6 Sep 2019, 1:25 p.m. | Last Modified: 6 Sep 2019, 1:25 p.m.
Panel Version: 1.190
Comment on list classification: Changing rating from red to amber. 3 cases of Pseudohypoaldosteronism are linked with possible founder effect mutation, 1 other cases. GMS submitted gene with Pseudohypoaldosteronism phenotype only listed. Variants in the gene also linked with Liddle syndrome 2 which may also be relevant to this panel.
Created: 5 Sep 2019, 9:40 p.m. | Last Modified: 5 Sep 2019, 9:40 p.m.
Panel Version: 1.157
Associated with Pseudohypoaldosteronism, type I #264350 in OMIM.
OMIM reports that in PMID: 8640238 - Strautnieks et al. 1996 - describe the identification of a 3' splice site mutation in SCNN1G (318-1 G-->A) in three families showing linkage to 16p. These three families all originate from the Indian sub-continent and the probands have severe generalized PHA. They share a common haplotype which suggests the presence of a founder mutation in this sub-population.
PMID: 29582446 - Turan et al 2018 - report a homozygous missense variant (p.A63P) that they classify as a VUS in SCNN1G in a patient (patient 5) with aldosterone defects.
Also associated with Liddle syndrome 2 in OMIM which has Hypokalemia as a clinical feature. More than 3 cases reported.
Created: 2 Sep 2019, 10:42 p.m. | Last Modified: 6 Sep 2019, 1:24 p.m.
Panel Version: 1.189
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: SCNN1G; 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
Created: 3 Feb 2019, 11:32 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Pseudohypoaldosteronism, type I, MIM 264350
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance for gene: SCNN1G was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SCNN1G were set to 8640238; 29582446
Gene: scnn1g has been classified as Green List (High Evidence).
Gene: scnn1g has been classified as Amber List (Moderate Evidence).
Publications for gene: SCNN1G were set to
Mode of inheritance for gene: SCNN1G was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCNN1G were changed from to Pseudohypoaldosteronism, type I, 264350
gene: SCNN1G was added gene: SCNN1G was added to Renal tubulopathies. Sources: NHS GMS Mode of inheritance for gene: SCNN1G was set to