HSD17B4

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Inherited white matter disorders

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Monogenic hearing loss

  BIALLELIC, autosomal or pseudoautosomal

• Peroxisomal disorders

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• d-bifunctional protein deficiency

  0.83

• Perrault syndrome 1

  0.76

• Perrault syndrome

  0.74

• hereditary disease

  0.49

• hearing loss disorder

  0.37

• Perrault syndrome 2

  0.37

• DNA methylation

  0.30

• neurodegenerative disease

  0.29

• placenta praevia

  0.27

• alcohol drinking

  0.27

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

Protein function (UniProt)