PGM1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Acute rhabdomyolysis

  BIALLELIC, autosomal or pseudoautosomal

• Clefting

  BIALLELIC, autosomal or pseudoautosomal

• Congenital disorders of glycosylation

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Glycogen storage disease

  BIALLELIC, autosomal or pseudoautosomal

• Ketotic hypoglycaemia

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• PGM1-congenital disorder of glycosylation

  0.84

• ALG13-CDG

  0.55

• developmental and epileptic encephalopathy, 36

  0.55

• MPDU1-congenital disorder of glycosylation

  0.55

• RFT1-congenital disorder of glycosylation

  0.55

• disorder of glycogen metabolism

  0.51

• Glycogen storage disease due to glycogenin deficiency

  0.51

• Glycogen storage disease due to phosphoglucomutase deficiency

  0.50

• congenital disorder of deglycosylation 1

  0.50

• Alacrimia-choreoathetosis-liver dysfunction syndrome

  0.50

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

Protein function (UniProt)