PDSS2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  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

• Proteinuric renal disease

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

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Disease associations (Open Targets)

• coenzyme Q10 deficiency, primary, 3

  0.77

• neurodegenerative disease

  0.53

• Leigh syndrome

  0.42

• coenzyme Q10 deficiency

  0.37

• lymphoid leukemia

  0.37

• prostate carcinoma

  0.32

• alcohol drinking

  0.32

• ovarian neoplasm

  0.29

• nephrotic syndrome

  0.28

• lysosomal storage disease

  0.20

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

Protein function (UniProt)