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Prepair 1000+

Gene: PGM1

Green List (high evidence)
PGM1 (phosphoglucomutase 1)
EnsemblGeneIds (GRCh38): ENSG00000079739
EnsemblGeneIds (GRCh37): ENSG00000079739
OMIM: 171900, Gene2Phenotype
PGM1 is in 13 panels

1 review

Lauren Rogers (Victorian Clinical Genetics Services)

Green List (high evidence)

Over 50 individuals reported. The most common features include cleft lip and bifid uvula, apparent at birth, followed by hepatopathy, intermittent hypoglycemia, short stature, and exercise intolerance, often accompanied by increased serum creatine kinase. Less common features include rhabdomyolysis, dilated cardiomyopathy, and hypogonadotropic hypogonadism.

Can present in the first year of life.
Created: 30 Jul 2024, 6:37 a.m. | Last Modified: 30 Jul 2024, 6:37 a.m.
Panel Version: 1.65

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type It (MIM#614921)

Publications

Created: 30 Jul 2024, 6:37 a.m.
Last Modified: 30 Jul 2024, 6:37 a.m.
Panel version: 1.65

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Congenital disorder of glycosylation, type It, 614921 (3)
OMIM
171900
Clinvar variants
Variants in PGM1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: pgm1 has been classified as Green List (High Evidence).

13 Aug 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: PGM1 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Congenital disorder of glycosylation, type It, 614921 (3) for gene: PGM1

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PGM1 was added gene: PGM1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PGM1 were set to Congenital disorder of glycosylation, type It, 614921 (3)