Monogenic hearing loss
Gene: ATP6V1B1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#267300:Renal tubular acidosis with deafness[Hearing loss, sensorineural; Renal tubular acidosisKidney stones; Inactive mutant form of red cell carbonic anhydrase B in one sibship; Caused by mutation in the ATPase, H+ transporting, lysosomal, beta polypeptide, 58kD gene (ATP6B1,)]
Publications
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 2:28 p.m.
Publications for ATP6V1B1 were set to PMID:12566520; 1373501; 18798332; 22509993; 2527371; 2869030; 7945239; 9916796
This gene has been classified as Green List (High Evidence).
Phenotypes for gene ATP6V1B1 were set to hearing loss; Distal Renal Tubular Acidosis with Progressive Nerve Deafness; Renal tubular acidosis with deafness, 267300
Model of inheritance for gene ATP6V1B1 was changed to BIALLELIC, autosomal or pseudoautosomal
ATP6V1B1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert,Illumina TruGenome Clinical Sequencing Services,UKGTN
Model of inheritance for gene ATP6V1B1 was changed to BIALLELIC, autosomal or pseudoautosomal
ATP6V1B1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert,Illumina TruGenome Clinical Sequencing Services,UKGTN
Model of inheritance for gene ATP6V1B1 was changed to BIALLELIC, autosomal or pseudoautosomal
ATP6V1B1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert,Illumina TruGenome Clinical Sequencing Services,UKGTN
Model of inheritance for gene ATP6V1B1 was changed to BIALLELIC, autosomal or pseudoautosomal
ATP6V1B1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert,Illumina TruGenome Clinical Sequencing Services,UKGTN
ATP6V1B1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert,Illumina TruGenome Clinical Sequencing Services,UKGTN