SLC4A4

solute carrier family 4 member 4
OMIM: 603345
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PROXIMAL RENAL TUBULAR ACIDOSIS WITH OCULAR ABNORMALITIES 604278
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Renal tubular acidosis, proximal, with ocular abnormalities, 604278, PROXIMAL RENAL TUBULAR ACIDOSIS WITH OCULAR ABNORMALITIES (PRTA-OA)
R-numbers: R198
Signed-off version 2.23
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Renal tubular acidosis, proximal, with ocular abnormalities, 604278, Proximal Renal Tubular Acidosis with Ocular Abnormalities, Proximal Renal Tubular Acidosis with Ocular Abnormalities (recessive).
R-numbers: R36
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Renal tubular acidosis, proximal, with ocular abnormalities, 604278