RCBTB1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Retinal disorders

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Primary ovarian insufficiency

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• RCBTB1-related retinopathy

  0.77

• Coats disease

  0.45

• Familial exudative vitreoretinopathy

  0.44

• Retinal dystrophy

  0.43

• refractive error

  0.39

• retinitis pigmentosa

  0.38

• exudative vitreoretinopathy

  0.37

• reticular dystrophy of the retinal pigment epithelium

  0.37

• Abnormality of refraction

  0.35

• primary angle-closure glaucoma

  0.30

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

Protein function (UniProt)