B3GALNT2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Arthrogryposis

  BIALLELIC, autosomal or pseudoautosomal

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• Cerebellar hypoplasia

  BIALLELIC, autosomal or pseudoautosomal

• Congenital disorders of glycosylation

  BIALLELIC, autosomal or pseudoautosomal

• Congenital muscular dystrophy

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia with onset in adulthood

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11

  0.83

• muscular dystrophy-dystroglycanopathy, type A

  0.60

• congenital muscular dystrophy

  0.51

• congenital muscular dystrophy due to LMNA mutation

  0.51

• muscle-eye-brain disease

  0.50

• hereditary disease

  0.38

• autosomal recessive non-syndromic intellectual disability

  0.37

• muscular dystrophy-dystroglycanopathy

  0.34

• parasitic infectious disease

  0.23

• type 2 diabetes mellitus

  0.22

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

Protein function (UniProt)