POMGNT1

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

+11 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

  0.83

• autosomal recessive limb-girdle muscular dystrophy type 2O

  0.80

• muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

  0.79

• retinitis pigmentosa 76

  0.77

• muscle-eye-brain disease

  0.65

• retinitis pigmentosa

  0.64

• autosomal recessive limb-girdle muscular dystrophy

  0.62

• Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies

  0.58

• myopathy caused by variation in POMGNT1

  0.58

• muscular dystrophy-dystroglycanopathy

  0.56

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

Protein function (UniProt)