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Early-onset Parkinson disease

Gene: PGK1

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Phenotypes
Phosphoglycerate kinase 1 deficiency, MIM# 300653

Created: 19 Jul 2022, 9:05 a.m.
Last Modified: 19 Jul 2022, 9:05 a.m.
Panel version: 0.176

SHEKEEB MOHAMMAD (Children's Hospital at Westmead)

Green List (high evidence)

Sources: Literature
Created: 17 Jul 2022, 2:47 p.m.

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

Phenotypes
Haemolytic anaemia; Rhabdomyolysis; Myopathy; Juvenile Parkinsonism; OMIM 300653

Publications

Created: 17 Jul 2022, 2:47 p.m.

Panel version: 0.134

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Phosphoglycerate kinase 1 deficiency, MIM# 300653
  • Haemolytic anaemia
  • Rhabdomyolysis
  • Myopathy
  • Juvenile Parkinsonism
  • OMIM 300653
OMIM
311800
Clinvar variants
Variants in PGK1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Jul 2022, 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).

19 Jul 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PGK1 were changed from Haemolytic anaemia; Rhabdomyolysis; Myopathy; Juvenile Parkinsonism; OMIM 300653 to Phosphoglycerate kinase 1 deficiency, MIM# 300653; Haemolytic anaemia; Rhabdomyolysis; Myopathy; Juvenile Parkinsonism; OMIM 300653

19 Jul 2022, 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).

17 Jul 2022, Gel status: 0

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

SHEKEEB MOHAMMAD (Children's Hospital at Westmead)

gene: PGK1 was added gene: PGK1 was added to Early-onset Parkinson disease. Sources: Literature 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 PMID: 30975619 Phenotypes for gene: PGK1 were set to Haemolytic anaemia; Rhabdomyolysis; Myopathy; Juvenile Parkinsonism; OMIM 300653 Review for gene: PGK1 was set to GREEN