FAM161A

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Retinal disorders

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Glaucoma (developmental)

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Structural eye disease

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• retinitis pigmentosa

  0.79

• Retinal dystrophy

  0.56

• autosomal recessive retinitis pigmentosa

  0.46

• neurodegenerative disease

  0.42

• hereditary disease

  0.42

• Posterior column ataxia - retinitis pigmentosa

  0.37

• eye disorder

  0.37

• Cone rod dystrophy

  0.36

• cone-rod dystrophy

  0.35

• vertebral disorder

  0.09

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

Protein function (UniProt)