SLC4A1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Cytopenias and congenital anaemias

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• DDG2P

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Nephrocalcinosis or nephrolithiasis

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Rare anaemia

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Renal tubulopathies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Fetal anomalies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Intellectual disability

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Ductal plate malformation

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• hereditary spherocytosis type 4

  0.82

• autosomal dominant distal renal tubular acidosis

  0.82

• renal tubular acidosis, distal, 4, with hemolytic anemia

  0.78

• southeast Asian ovalocytosis

  0.77

• hereditary spherocytosis

  0.76

• cryohydrocytosis

  0.75

• Hereditary cryohydrocytosis with normal stomatin

  0.72

• non-autoimmune hemolytic anemia

  0.68

• distal renal tubular acidosis

  0.62

• Distal renal tubular acidosis with anemia

  0.61

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)