DPM3

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

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• DPM3-congenital disorder of glycosylation

  0.80

• muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15

  0.51

• congenital disorder of glycosylation type I

  0.50

• dengue disease

  0.46

• congenital disorder of glycosylation

  0.37

• neurodegenerative disease

  0.37

• cardiomyopathy

  0.27

• myopathy

  0.27

• EMG: myopathic abnormalities

  0.27

• retinitis pigmentosa

  0.11

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

Protein function (UniProt)