POMT1

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

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

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

  0.82

• muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

  0.80

• autosomal recessive limb-girdle muscular dystrophy type 2K

  0.79

• muscular dystrophy-dystroglycanopathy, type A

  0.72

• autosomal recessive limb-girdle muscular dystrophy

  0.62

• myopathy caused by variation in POMT1

  0.51

• hereditary disease

  0.51

• neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan

  0.48

• muscle-eye-brain disease

  0.46

• limb-girdle muscular dystrophy-dystroglycanopathy, type c1

  0.46

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

Protein function (UniProt)