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Fetal anomalies

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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
Created: 2 Mar 2022, 9:38 a.m. | Last Modified: 2 Mar 2022, 9:39 a.m.
Panel Version: 0.4596

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type It 614921

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type It 614921
OMIM
171900
Clinvar variants
Variants in PGM1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Mar 2022, 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).

2 Mar 2022, 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 to Congenital disorder of glycosylation, type It 614921

2 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PGM1 were set to

24 Oct 2021, 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 Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp 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