TBC1D20

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Anophthalmia or microphthalmia

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Structural eye disease

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Optic neuropathy

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Micro syndrome

  0.75

• neurodegenerative disease

  0.51

• Warburg micro syndrome

  0.38

• Global developmental delay

  0.37

• Intellectual disability

  0.37

• Hepatitis

  0.37

• hereditary disease

  0.34

• lysosomal storage disease

  0.22

• Seizure

  0.18

• early-onset non-syndromic cataract

  0.07

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

Protein function (UniProt)