PDSS1

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

• Retinal disorders

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Deafness - encephaloneuropathy - obesity - valvulopathy

  0.77

• deafness-encephaloneuropathy-obesity-valvulopathy syndrome

  0.77

• coenzyme Q10 deficiency

  0.37

• neurodegenerative disease

  0.37

• lacrimal apparatus disorder

  0.28

• tricuspid valve disorder

  0.28

• esophageal cancer

  0.28

• frozen shoulder

  0.27

• hereditary disease

  0.19

• inborn mitochondrial metabolism disorder

  0.19

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

Protein function (UniProt)