19 Aug 2019
Undiagnosed metabolic disorders v1.223
PCK1
Sarah Leigh Classified gene: PCK1 as Green List (high evidence)
19 Aug 2019
Undiagnosed metabolic disorders v1.223
PCK1
Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in unrelated cases.
19 Aug 2019
Undiagnosed metabolic disorders v1.223
PCK1
Sarah Leigh Gene: pck1 has been classified as Green List (High Evidence).
19 Aug 2019
Undiagnosed metabolic disorders v1.222
PCK1
Sarah Leigh Publications for gene: PCK1 were set to 27604308
19 Aug 2019
Undiagnosed metabolic disorders v1.221
PCK1
Sarah Leigh Added comment: Comment on phenotypes: Phosphoenolpyruvate carboxykinase deficiency (Disorders of gluconeogenesis);Cytosolic phosphoenolpyruvate carboxykinase (PEPCK))
19 Aug 2019
Undiagnosed metabolic disorders v1.221
PCK1
Sarah Leigh 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
23 Feb 2017
Undiagnosed metabolic disorders
PCK1
Louise Daugherty reviewed PCK1