BBS12

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Bardet Biedl syndrome

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Limb disorders

  BIALLELIC, autosomal or pseudoautosomal

• Ophthalmological ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

• Rare multisystem ciliopathy disorders

  BIALLELIC, autosomal or pseudoautosomal

• Renal ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Bardet-Biedl syndrome 12

  0.83

• Bardet-Biedl syndrome

  0.78

• Bardet-Biedl syndrome 1

  0.58

• Retinal dystrophy

  0.54

• polydactyly

  0.46

• BBS12-related ciliopathy

  0.41

• obesity due to melanocortin 4 receptor deficiency

  0.38

• obesity disorder

  0.37

• Obesity

  0.37

• eye disorder

  0.37

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

Protein function (UniProt)