Renal tubulopathies
Gene: SCNN1B
Comment on mode of inheritance: Updating the mode of inheritance as both Pseudohypoaldosteronism, type I (biallelic) and Liddle syndrome 1 (monoallelic) are relevant to the panelCreated: 28 Nov 2019, 5:04 p.m. | Last Modified: 28 Nov 2019, 5:04 p.m.
Panel Version: 1.195
Comment on list classification: Changing rating from red to green as > 3 cases reported.Created: 5 Sep 2019, 9:33 p.m. | Last Modified: 5 Sep 2019, 9:33 p.m.
Panel Version: 1.154
Comment on mode of inheritance: Mode of inheritance is for Pseudohypoaldosteronism, type I, which is the phenotype listed by the GMS group.Created: 5 Sep 2019, 9:32 p.m. | Last Modified: 5 Sep 2019, 9:32 p.m.
Panel Version: 1.153
Associated with Liddle syndrome 1 #177200 (AD) and Pseudohypoaldosteronism, type I #264350 (AR) in OMIM.
Liddle syndrome 1 - 7 cases reported in OMIM.
Pseudohypoaldosteronism, type I :
PMID: 8589714 - Chang et al 1996 - report a Arabic kindred from Israel in which a homozygous missense mutation was found in betaENaC (G37S).
PMID: 26807262 - Nobel et al 2016 - report a 32-year-old female with pseudohypoaldosteronism type 1 with persistent, symptomatic hyperkalemia who was compound heterozygous for two variants in SCNN1B (c.1288delC and c.1466+1 G>A). .
PMID: 31301676 - Gopal-Kothandapani et al 2019 - Abstract only accessed - report a patient with PHA1 and a novel mutation in SCNN1B.
PMID: 31018202 - Cayir et al 2019 - Abstract only accessed - describe a consanguineous family with a child with systemic PHA1 and 2 novel pathogenic variants [c.87C>A(p.Tyr29*)/IVS9 + 1G>A (c.1346 + 1G>A)] in SCNN1B.
Created: 2 Sep 2019, 11:07 p.m. | Last Modified: 5 Sep 2019, 9:14 p.m.
Panel Version: 1.152
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: SCNN1B; 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 providedCreated: 3 Feb 2019, 11:32 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pseudohypoaldosteronism, type I, MIM 264350
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: From http://omim.org/clinicalSynopsis/177200Created: 10 May 2016, 11:12 a.m.
Comment on list classification: On eligibility statement but no reviews yetCreated: 10 May 2016, 11:11 a.m.
Mode of inheritance for gene: SCNN1B was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene: scnn1b has been classified as Green List (High Evidence).
Mode of inheritance for gene: SCNN1B was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCNN1B were changed from genes for Liddle, GRA, PHA1, hypomagnesemia without stones, AME are all missing; Pseudohypoaldosteronism, type I, 264350 to Pseudohypoaldosteronism, type I, 264350
Publications for gene: SCNN1B were set to
Mode of inheritance for gene: SCNN1B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCNN1B were changed from genes for Liddle, GRA, PHA1, hypomagnesemia without stones, AME are all missing to genes for Liddle, GRA, PHA1, hypomagnesemia without stones, AME are all missing; Pseudohypoaldosteronism, type I, 264350
Source NHS GMS was added to SCNN1B.
Mode of inheritance for SCNN1B was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Red List (Low Evidence).
SCNN1B was created by fek1000
SCNN1B was added to Renal tubular acidosispanel. Sources: Eligibility statement prior genetic testing