MMADHC

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  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

• Adult onset dystonia, chorea or related movement disorder

• Adult onset neurodegenerative disorder

  Unknown

+2 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• methylmalonic aciduria and homocystinuria type cblD

  0.81

• Methylmalonic acidemia with homocystinuria, type cblD

  0.79

• Methylmalonic acidemia with homocystinuria

  0.78

• homocystinuria without methylmalonic aciduria

  0.60

• methylmalonic aciduria and/or homocystinuria, cblD type

  0.60

• Methylmalonic acidemia with homocystinuria, type cblC

  0.50

• methylmalonic aciduria and homocystinuria type cblC

  0.50

• homocystinuria-megaloblastic anemia cblD type

  0.45

• isolated methylmalonic aciduria cblD type

  0.45

• inborn disorder of cobalamin metabolism and transport

  0.37

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

Protein function (UniProt)