Possible mitochondrial disorder - nuclear genes
Gene: PDHX
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY, 245349
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment on mode of inheritance: Confirmed on OMIM.Created: 12 Feb 2016, 11:31 a.m.
Comment on list classification: Both reviewers agree this gene should be promoted from red to green.Created: 12 Feb 2016, 11:30 a.m.
Gene added during review by Carl Fratter (Oxford University Hospitals NHS Trust).Created: 13 Nov 2015, 3:13 p.m.
Phenotypes for gene: PDHX were changed from PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY, 245349 to Lacticacidemia due to PDX1 deficiency, OMIM:245349
gene: PDHX was added gene: PDHX was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PDHX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDHX were set to PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY, 245349