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  2. Likely inborn error of metabolism
  3. PGK1
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Likely inborn error of metabolism

Gene: PGK1

Green List (high evidence)
PGK1 (phosphoglycerate kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000102144
EnsemblGeneIds (GRCh37): ENSG00000102144
OMIM: 311800, Gene2Phenotype
PGK1 is in 13 panels

2 reviews

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

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

Phenotypes
Rhabdomyolysis and metabolic muscle disorders

Created: 13 Jan 2017, 4:13 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.76

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 15 variants reported
Created: 17 Jan 2017, 4:36 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 1:59 p.m.

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

Phenotypes
Rhabdomyolysis and metabolic muscle disorders

Created: 6 Jan 2017, 2:01 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.15

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PGK1. Source London North GLH was added to PGK1.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: PGK1 was added gene: PGK1 was added to Inborn errors of metabolism. Sources: Expert Review Green 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 27604308 Phenotypes for gene: PGK1 were set to Phosphoglycerate kinase 1 deficiency