ALMS1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Alstrom syndrome

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Diabetes with additional phenotypes suggestive of a monogenic aetiology

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Insulin resistance (including lipodystrophy)

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Monogenic hearing loss

  BIALLELIC, autosomal or pseudoautosomal

• Ophthalmological ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Alstrom syndrome

  0.82

• Bardet-Biedl syndrome

  0.64

• Abnormality of the cardiovascular system

  0.56

• Retinal dystrophy

  0.55

• Leber congenital amaurosis

  0.55

• retinitis pigmentosa

  0.53

• cardiomyopathy

  0.43

• Intellectual disability

  0.43

• intelligence

  0.38

• eye disorder

  0.37

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

Protein function (UniProt)