PTCD3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

• Possible mitochondrial disorder - nuclear genes

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• combined oxidative phosphorylation deficiency 51

  0.67

• mixed connective tissue disease

  0.27

• hereditary disease

  0.19

• posterior cortical atrophy

  0.07

• alcohol drinking

  0.07

• LCAT deficiency

  0.06

• multinodular goiter

  0.06

• hyperlipoproteinemia type V

  0.06

• Hyperlipoproteinemia type 5

  0.06

• Fish-eye disease

  0.05

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

Protein function (UniProt)