GDAP2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Hereditary ataxia with onset in adulthood

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• spinocerebellar ataxia, autosomal recessive, 27

  0.69

• alcohol drinking

  0.12

• preeclampsia

  0.08

• sinusitis

  0.07

• respiratory tract infectious disorder

  0.06

• androgenetic alopecia

  0.05

• Gaucher disease

  0.04

• Gaucher disease due to saposin C deficiency

  0.04

• Hypocalcemic vitamin D-resistant rickets

  0.04

• amegakaryocytic thrombocytopenia, congenital, 2

  0.04

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