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
R-numbers: R256
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Distal renal tubular acidosis 3, with or without sensorineural hearing loss, OMIM:602722
Green
in Renal tubulopathies
R-numbers: R198
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Distal renal tubular acidosis 3, with or without sensorineural hearing loss, OMIM:602722