B4GAT1

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 muscular dystrophy

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Hydrocephalus

  BIALLELIC, autosomal or pseudoautosomal

• Malformations of cortical development

  BIALLELIC, autosomal or pseudoautosomal

• Bilateral congenital or childhood onset cataracts

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13

  0.77

• muscular dystrophy-dystroglycanopathy, type A

  0.42

• congenital muscular dystrophy

  0.37

• muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

  0.27

• hereditary disease

  0.19

• gout

  0.16

• 46,XX gonadal dysgenesis

  0.12

• genetic non-acquired premature ovarian failure

  0.12

• handedness

  0.11

• diverticular disease

  0.08

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

Protein function (UniProt)