AMPD2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• Cerebellar hypoplasia

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Adult onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

+6 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• pontocerebellar hypoplasia type 9

  0.81

• pontocerebellar hypoplasia

  0.67

• hereditary spastic paraplegia 63

  0.65

• Non-syndromic pontocerebellar hypoplasia

  0.49

• Autosomal recessive spastic paraplegia type 63

  0.46

• hereditary disease

  0.40

• Abnormality of the nervous system

  0.34

• spastic ataxia

  0.34

• Global developmental delay

  0.26

• cerebral malformation

  0.26

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

Protein function (UniProt)