SLC34A1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Hypophosphataemia or rickets

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Nephrocalcinosis or nephrolithiasis

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Skeletal dysplasia

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Cytopenias and congenital anaemias

• Renal tubulopathies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

• hypercalcemia, infantile, 2

  0.78

• hypophosphatemic nephrolithiasis/osteoporosis 1

  0.76

• Fanconi renotubular syndrome 2

  0.69

• nephrolithiasis

  0.57

• Autosomal recessive infantile hypercalcemia

  0.52

• chronic kidney disease

  0.50

• kidney failure

  0.44

• nephrocalcinosis

  0.39

• primary Fanconi syndrome

  0.39

• hereditary hypophosphatemic rickets with hypercalciuria

  0.39

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

Protein function (UniProt)