Glycogen Storage Diseases
Gene: PGM1

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Congenital disorder of glycosylation type It (CDG1T) is an autosomal recessive disorder characterized by a wide range of clinical manifestations and severity. 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.
Created: 6 Mar 2021, 7:23 a.m. | Last Modified: 6 Mar 2021, 7:23 a.m.

Panel Version: 0.75

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type It 614921; Glycogen storage disorder XIV

Publications

Created: 6 Mar 2021, 7:23 a.m.
Last Modified: 6 Mar 2021, 7:23 a.m.
Panel version: 0.75

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Congenital disorder of glycosylation, type It 614921
Glycogen storage disorder XIV

Tags

treatable

OMIM

171900

Clinvar variants

Variants in PGM1

Penetrance

None

Publications

Panels with this gene