HERC1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• macrocephaly, dysmorphic facies, and psychomotor retardation

  0.74

• hereditary disease

  0.50

• atrial fibrillation

  0.43

• diabetes mellitus

  0.35

• type 2 diabetes mellitus

  0.33

• pathological myopia

  0.27

• Abnormal nasolacrimal system morphology

  0.26

• Febrile seizure (within the age range of 3 months to 6 years)

  0.25

• depressive disorder

  0.25

• familial lipoprotein lipase deficiency

  0.23

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

Protein function (UniProt)