Genomics England
GMS Panels
Panels
Genes and Entities

ATP6V0A4

ATPase H+ transporting V0 subunit a4
OMIM: 605239
PanelMode of inheritanceDetails
2 panels
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 3, with or without sensorineural hearing loss, OMIM:602722
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
Distal renal tubular acidosis 3, with or without sensorineural hearing loss, OMIM:602722