HS2ST1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• CAKUT

  BIALLELIC, autosomal or pseudoautosomal

• Holoprosencephaly

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• neurofacioskeletal syndrome with or without renal agenesis

  0.71

• Intellectual disability

  0.53

• multiple congenital anomalies/dysmorphic syndrome-intellectual disability

  0.38

• arthrogryposis

  0.37

• complex neurodevelopmental disorder

  0.37

• alcohol drinking

  0.33

• breast benign neoplasm

  0.27

• urolithiasis

  0.26

• appendicitis

  0.26

• hereditary disease

  0.19

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

Protein function (UniProt)