Genomics England
GMS Panels
Panels
Genes and Entities

SLC4A1

solute carrier family 4 member 1 (Diego blood group)
OMIM: 109270
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
RENAL TUBULAR ACIDOSIS, DISTAL, AD 179800, RENAL TUBULAR ACIDOSIS, DISTAL, AR 611590
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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
distal renal tubular acidosis, Renal tubular acidosis, distal, AD, 179800, Renal tubular acidosis, distal, AR 611590
Green
in Rare anaemia
R-numbers: R92
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
612653 Spherocytosis, type 4, Ovalocytosis, SA type, 166900, 166900 Ovalocytosis, SA type, 185020 Cryohydrocytosis, Spherocytosis, type 4, 612653, Cryohydrocytosis,185020, RBC membrane abnormality, Haemolytic Anemia, 166900 Ovalocytosis, SA type
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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Distal Renal Tubular Acidosis, Dominant, Ovalocytosis, Distal renal tubular acidosis, Renal tubular acidosis, distal, AD,179800, Renal tubular acidosis, distal, AR, 611590, Cryohydrocytosis, 185020, Ovalocystois, SA type 166900, Spherocytoisis type 4, 612653, various blood group associations.