SLC35A3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Arthrogryposis

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Congenital disorders of glycosylation

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• autism spectrum disorder - epilepsy - arthrogryposis syndrome

  0.77

• Autism spectrum disorder-epilepsy-arthrogryposis syndrome

  0.59

• developmental disorder of mental health

  0.37

• epilepsy syndrome

  0.37

• distal arthrogryposis

  0.37

• hereditary disease

  0.34

• neurodegenerative disease

  0.28

• seasonal allergic rhinitis

  0.24

• arthrogryposis multiplex congenita

  0.17

• colorectal carcinoma

  0.08

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

Protein function (UniProt)