CAD

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Congenital disorders of glycosylation

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• congenital disorder of glycosylation type I

  0.67

• infantile epileptic-dyskinetic encephalopathy

  0.48

• type 2 diabetes mellitus

  0.24

• urolithiasis

  0.23

• hereditary disease

  0.19

• polycythemia

  0.19

• coronary artery disease, autosomal dominant 2

  0.17

• hair color

  0.17

• Meniere disease

  0.16

• epilepsy

  0.13

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

Protein function (UniProt)