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 5.0
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 4.57
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
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R256
Signed-off version 4.16
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
distal renal tubular acidosis, Renal tubular acidosis with deafness 267300
Green
in Renal tubulopathies
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R198
Signed-off version 4.18
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Renal tubular acidosis with deafness, 267300, Distal Renal Tubular Acidosis with Progressive Nerve Deafness, Distal renal tubular acidosis