GFER

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Bilateral congenital or childhood onset cataracts

  BIALLELIC, autosomal or pseudoautosomal

• Congenital myopathy

  BIALLELIC, autosomal or pseudoautosomal

• 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

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

+4 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome

  0.75

• Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay

  0.73

• neurodegenerative disease

  0.56

• mitochondrial disease

  0.51

• hereditary disease

  0.47

• Intellectual disability

  0.37

• inborn mitochondrial metabolism disorder

  0.37

• lysosomal storage disease

  0.25

• liver disorder

  0.13

• metabolic dysfunction-associated steatohepatitis

  0.08

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

Protein function (UniProt)