AASS

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

• Intellectual disability

  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

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• hyperlysinemia

  0.80

• saccharopinuria

  0.41

• progressive encephalopathy with leukodystrophy due to DECR deficiency

  0.37

• lysosomal storage disease

  0.33

• neurodegenerative disease

  0.33

• Parkinson disease

  0.33

• Alzheimer disease

  0.33

• multiple sclerosis

  0.33

• Dupuytren Contracture

  0.29

• frozen shoulder

  0.27

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

Protein function (UniProt)