MCEE

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Ketotic hypoglycaemia

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Hyperammonaemia

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency

  0.75

• hereditary disease

  0.41

• methylmalonic acidemia

  0.41

• Hallux valgus

  0.03

• rheumatoid arthritis

  0.03

• dyshidrosis

  0.03

• bone Paget disease

  0.02

• complication

  0.02

• gastrointestinal disease

  0.02

• metabolic syndrome

  0.01

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

Protein function (UniProt)