AMT

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

• Childhood onset dystonia, chorea or related movement disorder

Disease associations (Open Targets)

• glycine encephalopathy

  0.83

• glycine encephalopathy 1

  0.69

• hereditary disease

  0.49

• Neurodevelopmental delay

  0.43

• atypical glycine encephalopathy

  0.37

• infantile glycine encephalopathy

  0.37

• neonatal glycine encephalopathy

  0.37

• inflammatory bowel disease

  0.19

• Abnormality of the skeletal system

  0.09

• substance-related disorder

  0.08

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

Protein function (UniProt)