Mitochondrial disorders
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 to Pyruvate carboxylase deficiency, OMIM:266150
This gene has been classified as Green List (High Evidence).
Phenotypes for PC were set to Pyruvate carboxylase deficiency
Mode of inheritance for PC was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
PC was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert Review
This proposed gene was validated and added to this panel
PC was added to All recognised syndromes and those with suggestive featurespanel. Sources: Literature