Renal tubulopathies
Gene: ATP6V1B1
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: ATP6V1B1; 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
Renal tubular acidosis with deafness MIM 267300
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Known expert and OMIM all in agreementCreated: 10 May 2016, 10:10 a.m.
Recent Moe paper implicates carriage of E161K in compensated dRTA and recurrent stone formationCreated: 28 Oct 2015, 7:36 p.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Both Illumina and expert sources suggest a recessive mode of inheritance.Created: 8 Jul 2015, 1:22 p.m.
Source NHS GMS was added to ATP6V1B1. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
ATP6V1B1 was added to Renal tubular acidosispanel. Sources: Eligibility statement prior genetic testing
ATP6V1B1 was added to Renal tubular acidosispanel. Sources: Expert
ATP6V1B1 was added to Renal tubular acidosispanel. Sources: UKGTN
ATP6V1B1 was added to Renal tubular acidosispanel. Sources: Illumina TruGenome Clinical Sequencing Services
ATP6V1B1 was added to Renal tubular acidosispanel. Sources: Radboud University Medical Center, Nijmegen