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  3. PGK1
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Glycogen Storage Diseases

Gene: PGK1

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

1 review

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, 7:30 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

Created: 6 Mar 2021, 7:30 a.m.
Last Modified: 6 Mar 2021, 7:30 a.m.
Panel version: 0.78

Details

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

History Filter Activity

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, MIM# 300653 to Phosphoglycerate kinase 1 deficiency, MIM# 300653; MONDO:0010392

6 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

6 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PGK1 were changed from to Phosphoglycerate kinase 1 deficiency, MIM# 300653

6 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PGK1 were set to

6 Mar 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PGK1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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