Red cell disorders
Gene: PGK1EnsemblGeneIds (GRCh38): ENSG00000102144
EnsemblGeneIds (GRCh37): ENSG00000102144
OMIM: 311800, Gene2Phenotype
PGK1 is in 9 panels
1 review
Danielle Ariti (University of Melbourne)
>10 individuals reported with hemizygous variants (missense, nonsense, del, dup and splice).
Phosphoglycerate kinase 1 deficiency clinically manifests in three different organs: red blood cells (60% patients with Haemolytic anaemia), the central nervous system (50% patients), and muscles (45% patients). Other features may include chronic anaemia, exercise-intolerant myopathy, muscle weakness, cramping, myalgia, seizures, myoglobinuria, intellectual disability, and increased serum bilirubin and reticulocyte count.Created: 14 Sep 2021, 3:30 a.m. | Last Modified: 14 Sep 2021, 3:30 a.m.
Panel Version: 0.128
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Phosphoglycerate kinase 1 deficiency MIM# 300653
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- London South GLH
- NHS GMS
- Phenotypes
-
- Phosphoglycerate kinase 1 deficiency MIM# 300653
- OMIM
- 311800
- Clinvar variants
- Variants in PGK1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pgk1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PGK1 were changed from 300653 Phosphoglycerate kinase 1 deficiency to Phosphoglycerate kinase 1 deficiency MIM# 300653
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PGK1 were set to 16740138; 6412025
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pgk1 has been classified as Green List (High Evidence).
Set Phenotypes, Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Added phenotypes 300653 Phosphoglycerate kinase 1 deficiency for gene: PGK1 Publications for gene PGK1 were updated from 6412025; 16740138 to 16740138; 6412025
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PGK1 was added gene: PGK1 was added to Rare anaemia_GEL. Sources: NHS GMS,London South GLH,Expert Review Amber Mode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PGK1 were set to 6412025; 16740138 Phenotypes for gene: PGK1 were set to 300653 Phosphoglycerate kinase 1 deficiency