PIBF1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Neurological ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

• Rare multisystem ciliopathy disorders

  BIALLELIC, autosomal or pseudoautosomal

• Ophthalmological ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

• Renal ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Joubert syndrome 33

  0.72

• Joubert syndrome

  0.64

• cerebellar ataxia

  0.46

• Ataxia

  0.46

• Global developmental delay

  0.46

• cephalocele

  0.42

• hereditary disease

  0.42

• thyroid gland carcinoma

  0.35

• familial hypercholesterolemia

  0.33

• Dandy-Walker syndrome

  0.33

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

Protein function (UniProt)