ATP6V0A4

ATPase H+ transporting V0 subunit a4
OMIM: 605239
PanelMode of inheritanceDetails
2 panels
R-numbers: R256
Signed-off version 2.2
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
distal renal tubular acidosis, Compensated or uncomensated dRTA and/or recurrent stone formation, usually with hypocitraturia. +/- deafness, Renal tubular acidosis, distal, autosomal recessive
R-numbers: R198
Signed-off version 2.23
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Distal Renal Tubular Acidosis, Recessive, Renal tubular acidosis, distal, autosomal recessive, 602722, Distal renal tubular acidosis, Autosomal recessive distal renal tubular acidosis