OCRL

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Bilateral congenital or childhood onset cataracts

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• DDG2P

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Fetal anomalies

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Glaucoma (developmental)

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Hypophosphataemia or rickets

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Intellectual disability

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Likely inborn error of metabolism

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Nephrocalcinosis or nephrolithiasis

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

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Disease associations (Open Targets)

• oculocerebrorenal syndrome

  0.86

• Dent disease type 2

  0.81

• Dent disease

  0.72

• nephrocalcinosis

  0.45

• hypercholesterolemia, familial, 1

  0.33

• Neurodevelopmental delay

  0.27

• amino acid metabolism disease

  0.19

• neurodegenerative disease

  0.14

• genetic developmental and epileptic encephalopathy

  0.12

• intellectual developmental disorder, autosomal dominant 65

  0.12

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

Protein function (UniProt)