PMM2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Congenital disorders of glycosylation

  BIALLELIC, autosomal or pseudoautosomal

• Congenital hyperinsulinism

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Fetal hydrops

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy or pain disorder

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• PMM2-congenital disorder of glycosylation

  0.87

• hereditary disease

  0.54

• cerebellar ataxia

  0.48

• isolated cerebellar hypoplasia/agenesis

  0.48

• congenital disorder of glycosylation type I

  0.46

• congenital disorder of glycosylation

  0.46

• Intellectual disability

  0.43

• cerebral palsy

  0.42

• Poor speech

  0.42

• Spasticity

  0.42

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

Protein function (UniProt)

Diseases associated with PMM2

Curated MONDO disease pages that list PMM2 among their top associated genes.

• cerebellar ataxiaRare