Genomics England
GMS Panels
Panels
Genes and Entities

ATP6V1B1

ATPase H+ transporting V1 subunit B1
OMIM: 192132
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.6
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 4.50
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
Green
in Unexplained young onset end-stage renal disease
R-numbers: R257
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Renal tubular acidosis with deafness 267300, distal renal tubular acidosis