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Newborns main panel

Gene: PCK1

Green List (high evidence)
PCK1 (phosphoenolpyruvate carboxykinase 1)
EnsemblGeneIds (GRCh38): ENSG00000124253
EnsemblGeneIds (GRCh37): ENSG00000124253
OMIM: 614168, Gene2Phenotype
PCK1 is in 3 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:39 p.m. | Last Modified: 1 Jun 2023, 2:39 p.m.
Panel Version: 0.137
Genotypic and phenotypic spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency - PubMed (nih.gov) (32 patients, 25 famlies, 9 variants)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Phosphoenolpyruvate carboxykinase deficiency, cytosolic
OMIM
614168
Clinvar variants
Variants in PCK1
Penetrance
None
Panels with this gene

History Filter Activity

31 Dec 2025, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to PCK1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to PCK1. Added phenotypes Phosphoenolpyruvate carboxykinase deficiency, cytosolic for gene: PCK1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to PCK1. Added phenotypes Phosphoenolpyruvate carboxykinase deficiency, cytosolic for gene: PCK1 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to PCK1. Added phenotypes Phosphoenolpyruvate carboxykinase deficiency, cytosolic for gene: PCK1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 May 2023, Gel status: 3

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

Mafalda Gomes (Genomics England Curator)

gene: PCK1 was added gene: PCK1 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: PCK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCK1 were set to Phosphoenolpyruvate carboxykinase deficiency, cytosolic