DPM2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Congenital disorders of glycosylation

  BIALLELIC, autosomal or pseudoautosomal

• Congenital muscular dystrophy

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Arthrogryposis

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• congenital muscular dystrophy with intellectual disability and severe epilepsy

  0.78

• congenital disorder of glycosylation type I

  0.50

• dengue disease

  0.46

• lens disorder

  0.15

• cataract

  0.13

• neonatal intrahepatic cholestasis due to citrin deficiency

  0.04

• breast cancer

  0.04

• Hypertryptophanemia

  0.04

• congenital adrenal hyperplasia

  0.03

• congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

  0.03

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

Protein function (UniProt)