Glycogen Storage Diseases
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, 7:30 a.m. | Last Modified: 6 Mar 2021, 7:30 a.m.
Panel Version: 0.78
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Phosphoglycerate kinase 1 deficiency, MIM# 300653
Publications
Phenotypes for gene: PGK1 were changed from Phosphoglycerate kinase 1 deficiency, MIM# 300653 to Phosphoglycerate kinase 1 deficiency, MIM# 300653; MONDO:0010392
Gene: pgk1 has been classified as Green List (High Evidence).
Phenotypes for gene: PGK1 were changed from to Phosphoglycerate kinase 1 deficiency, MIM# 300653
Publications for gene: PGK1 were set to
Mode of inheritance for gene: PGK1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
gene: PGK1 was added gene: PGK1 was added to Glycogen Storage Diseases_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PGK1 was set to Unknown