Likely inborn error of metabolism
Gene: PCK1

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

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in unrelated cases.
Created: 19 Aug 2019, 2:10 p.m. | Last Modified: 19 Aug 2019, 2:10 p.m.

Panel Version: 1.211

Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in unrelated cases.
Created: 19 Aug 2019, 2:09 p.m. | Last Modified: 19 Aug 2019, 2:09 p.m.

Panel Version: 1.210

Comment on phenotypes: Phosphoenolpyruvate carboxykinase deficiency (Disorders of gluconeogenesis);Cytosolic phosphoenolpyruvate carboxykinase (PEPCK))
Created: 19 Aug 2019, 2:04 p.m. | Last Modified: 19 Aug 2019, 2:04 p.m.

Panel Version: 1.207

Created: 19 Aug 2019, 2:04 p.m.
Last Modified: 19 Aug 2019, 2:04 p.m.
Panel version: 1.207

Louise Daugherty (NIHR BioResource - Rare Diseases Study (NIHRBR-RD), University of Cambridge & NHS Blood and Transplant)

gene: PCK1 review by Louise Daugherty

PCK1 is responsible for the cytosolic (soluble) form of PEPCK deficiency. PMID: 24863970 (2014) 1 family (2 sibs affected); PMID:26971250 (2016) 1 affected homozygous 12-bp deletion in PCK1, together with supporting functional studies.
Created: 23 Feb 2017, 5:15 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency; (PCK1 DEFICIENCY, Cytosolic phosphoenolpyruvate carboxykinase (PEPCK))

Publications

Created: 23 Feb 2017, 5:15 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.304

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
London North GLH
NHS GMS

Phenotypes

?Phosphoenolpyruvate carboxykinase deficiency, cytosolic 261680

OMIM

614168

Clinvar variants

Variants in PCK1

Penetrance

None

Publications

Panels with this gene