Rhabdomyolysis and Metabolic Myopathy
Gene: PGK1
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
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 listCreated: 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
Gene: pgk1 has been classified as Green List (High Evidence).
Publications for gene: PGK1 were set to 6933565; 1547346; 7577653; 9512313
Gene: pgk1 has been classified as Green List (High Evidence).
Publications for gene: PGK1 were set to
Phenotypes for gene: PGK1 were changed from Phosphoglycerate kinase 1 deficiency 300653 to Phosphoglycerate kinase 1 deficiency 300653; MONDO:0010392
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