HSD3B7

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Cholestasis

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Neonatal cholestasis

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• congenital bile acid synthesis defect 1

  0.78

• Congenital bile acid synthesis defect type 1

  0.68

• congenital bile acid synthesis defect

  0.46

• hereditary disease

  0.19

• Irritability

  0.18

• diverticular disease

  0.17

• psoriasis

  0.17

• Abnormality of the skeletal system

  0.16

• Parkinson disease

  0.15

• juvenile myoclonic epilepsy

  0.13

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

Protein function (UniProt)