B3GAT3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Congenital disorders of glycosylation

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Rare syndromic craniosynostosis or isolated multisuture synostosis

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

• Clefting

+3 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• Larsen-like syndrome, B3GAT3 type

  0.80

• Autosomal dominant Larsen syndrome

  0.37

• congenital heart disease

  0.37

• Abnormality of the skeletal system

  0.29

• hereditary disease

  0.19

• irritable bowel syndrome

  0.11

• familial digital arthropathy-brachydactyly

  0.09

• brachydactyly-syndactyly syndrome

  0.09

• tibia, hypoplasia or aplasia of, with polydactyly

  0.09

• Absent tibia - polydactyly

  0.09

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

Protein function (UniProt)