Likely inborn error of metabolism - targeted testing not possible
Gene: PC
Comment on phenotypes: Sourced from OMIM.Created: 12 Feb 2016, 10:32 a.m.
Comment on mode of inheritance: Confirmed on OMIM.Created: 12 Feb 2016, 10:31 a.m.
Comment on list classification: Both reviewers agree this should be promoted from red.Created: 12 Feb 2016, 10:31 a.m.
Gene added during review by Carl Fratter (Oxford University Hospitals NHS Trust).Created: 13 Nov 2015, 3:12 p.m.
Arguments can be made for or against inclusion in "mitochondrial disorders", but significant clinical & biochemical overlap (lactic acidosis), so I feel this should be included in the panel.Created: 28 Sep 2015, 2:47 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: PC were changed from Pyruvate carboxylase deficiency (Disorders of gluconeogenesis); lactic acidosis, hypotonia, encephalopathy; Pyruvate carboxylase deficiency 266150; Pyruvate carboxylase deficiency to Pyruvate carboxylase deficiency, OMIM:266150
Source NHS GMS was added to PC. Source London North GLH was added to PC.
Ellen McDonagh: Comment on mode of pathogenici
Added phenotypes Pyruvate carboxylase deficiency for gene: PC
gene: PC was added gene: PC was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PC were set to 27604308 Phenotypes for gene: PC were set to Pyruvate carboxylase deficiency (Disorders of gluconeogenesis); lactic acidosis, hypotonia, encephalopathy; Pyruvate carboxylase deficiency 266150; Pyruvate carboxylase deficiency