POMGNT2

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

• Hydrocephalus

  BIALLELIC, autosomal or pseudoautosomal

+9 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 a, 8

  0.80

• muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8

  0.65

• muscular dystrophy-dystroglycanopathy, type A

  0.46

• limb-girdle muscular dystrophy

  0.37

• myopathy caused by variation in POMGNT2

  0.37

• hereditary disease

  0.34

• ankylosing spondylitis

  0.26

• Severe hydrocephalus

  0.26

• placenta praevia

  0.20

• ovarian neoplasm

  0.19

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

Protein function (UniProt)