Likely inborn error of metabolism - targeted testing not possible
Gene: PCK1Comment 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 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
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
Gene: pck1 has been classified as Green List (High Evidence).
Gene: pck1 has been classified as Green List (High Evidence).
Gene: pck1 has been classified as Green List (High Evidence).
Publications for gene: PCK1 were set to 27604308; 24863970; 26971250
Publications for gene: PCK1 were set to 27604308; 24863970; 26971250
Publications for gene: PCK1 were set to 27604308; 24863970; 26971250
Publications for gene: PCK1 were set to 27604308
Phenotypes for gene: PCK1 were changed from Phosphoenolpyruvate carboxykinase deficiency (Disorders of gluconeogenesis); ?Phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency; (PCK1 DEFICIENCY, Cytosolic phosphoenolpyruvate carboxykinase (PEPCK)) to ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic 261680
Source NHS GMS was added to PCK1. Source London North GLH was added to PCK1.
Sarah Leigh: Associated with relevant pheno
gene: PCK1 was added gene: PCK1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PCK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCK1 were set to 27604308 Phenotypes for gene: PCK1 were set to Phosphoenolpyruvate carboxykinase deficiency (Disorders of gluconeogenesis); ?Phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency; (PCK1 DEFICIENCY, Cytosolic phosphoenolpyruvate carboxykinase (PEPCK))