PCYT1A

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Insulin resistance (including lipodystrophy)

  BIALLELIC, autosomal or pseudoautosomal

• Retinal disorders

  BIALLELIC, autosomal or pseudoautosomal

• Severe insulin resistance and lipodystrophy syndromes

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Monogenic diabetes

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Spondylometaphyseal dysplasia - cone-rod dystrophy

  0.78

• spondylometaphyseal dysplasia-cone-rod dystrophy syndrome

  0.76

• lipodystrophy, congenital generalized, type 5

  0.47

• neurodegenerative disease

  0.46

• Leber congenital amaurosis

  0.45

• hereditary disease

  0.41

• cholestasis, progressive familial intrahepatic, 6

  0.38

• congenital generalized lipodystrophy

  0.37

• Insulin resistance

  0.37

• Retinal dystrophy

  0.17

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

Protein function (UniProt)