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Rhabdomyolysis and Metabolic Myopathy

Gene: PGM1

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

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Rhabdomyolysis reported.
Created: 30 Sep 2020, 10:06 a.m. | Last Modified: 30 Sep 2020, 10:06 a.m.
Panel Version: 0.184

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 30 Sep 2020, 10:06 a.m.
Last Modified: 30 Sep 2020, 10:06 a.m.
Panel version: Imported from Rhabdomyolysis panel version 0.184

Sarah Donoghue (Royal Children's Hospital)

Green List (high evidence)

Mixed type disorder of glycosylation - may have type I/II pattern
Often glycosylation abnormalities less prominent in adulthood
May also normalise with high milk intake

Abnormalities of coagulation, hypothyroidism, hypogonadotrophic hypogonadism, hypoglycaemia, can have abnormal IGF1, IGFB3

This condition is treatable with galactose - may correct glycosylation abnormalities
Created: 30 Sep 2020, 7:03 a.m. | Last Modified: 30 Sep 2020, 7:03 a.m.
Panel Version: 0.184

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dilated Cardiomyopathy; Cleft Palate; Bifid Uvula; Hypothyroidism; Hepatopathy; Elevated transaminases; Hypogonadotropic hypogonadism; Hypoglycaemia; Rhabdomyolysis; Skeletal myopathy; Malignant hypothermia; Abnormal Coagulation

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 30 Sep 2020, 7:03 a.m.
Last Modified: 30 Sep 2020, 7:03 a.m.
Panel version: Imported from Rhabdomyolysis panel version 0.184

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Rhabdomyolysis/myopathy is a prominent feature of the condition in around 40% of cases.
Sources: Expert list
Created: 12 Feb 2020, 6:42 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type It MIM#614921

Publications

Created: 12 Feb 2020, 6:42 a.m.

Panel version: Imported from Myopathy Superpanel panel version 0.26

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type It, MIM# 614921
Tags
treatable
OMIM
171900
Clinvar variants
Variants in PGM1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Nov 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: PGM1.

7 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

7 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PGM1 were changed from Congenital disorder of glycosylation, type It 614921 to Congenital disorder of glycosylation, type It, MIM# 614921

7 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PGM1 were set to

14 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PGM1 was added gene: PGM1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,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