Rhabdomyolysis and Metabolic Myopathy

Gene: PGK1

Green List (high evidence)

PGK1 (phosphoglycerate kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000102144
EnsemblGeneIds (GRCh37): ENSG00000102144
OMIM: 311800, Gene2Phenotype
PGK1 is in 9 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Established gene-disease association.
Created: 6 Mar 2021, 7:33 a.m. | Last Modified: 6 Mar 2021, 7:33 a.m.
Panel Version: 0.6630

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Phosphoglycerate kinase 1 deficiency, MIM# 300653

Publications

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

OMIM: Myopathy in approximately 45% of patients

PMID: 19157875 - 18 year old patient experiencing muscle cramps and myalgia from 7 years old. Symptoms were aggravated by exercise, and he has elevated CK levels. Review table 2 shows variants associated with myopathy cluster within the C-terminal of the protein, 1/2 had childhood onset.

PMID: 30570712 - 1 family (2 siblings) with childhood onset metabolic myopathy with muscle pain and exercise intolerance. Patient had elevated CK levels, and a deletion spanning part of the 3' UTR region of this gene, but also 5 additional genes with no disease assocation.

PMID: 28801086 - 18 year old patient with difficulty walking at 10 years old, generalized dystonia and progressive leukodystrophy. Muscle weakness was not obvious and he had normal CK levels.

PMID: 26883264 - 1 family (2 siblings) with exercise intolerance, generalized weakness and muscle pain following exercise with onset in childhood.
Sources: Expert list
Created: 22 Jun 2020, 12:31 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Phosphoglycerate kinase 1 deficiency 300653

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Phosphoglycerate kinase 1 deficiency 300653
  • MONDO:0010392
OMIM
311800
Clinvar variants
Variants in PGK1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: pgk1 has been classified as Green List (High Evidence).

15 Apr 2023, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: PGK1 were set to 6933565; 1547346; 7577653; 9512313

15 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: pgk1 has been classified as Green List (High Evidence).

15 Apr 2023, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: PGK1 were set to

6 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PGK1 were changed from Phosphoglycerate kinase 1 deficiency 300653 to Phosphoglycerate kinase 1 deficiency 300653; MONDO:0010392

14 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PGK1 was added gene: PGK1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PGK1 were set to Phosphoglycerate kinase 1 deficiency 300653