Genomics England
GMS Panels
Panels
Genes and Entities

ATP6V1B1

ATPase H+ transporting V1 subunit B1
OMIM: 192132
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DISTAL RENAL TUBULAR ACIDOSIS WITH DEAFNESS 267300
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
hearing loss, Distal Renal Tubular Acidosis with Progressive Nerve Deafness, Renal tubular acidosis with deafness, 267300
Green
in Nephrocalcinosis or nephrolithiasis
R-numbers: R256
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
distal renal tubular acidosis, Renal tubular acidosis with deafness 267300
Green
in Renal tubulopathies
R-numbers: R198
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Renal tubular acidosis with deafness, 267300, Distal Renal Tubular Acidosis with Progressive Nerve Deafness, Distal renal tubular acidosis