Mitochondrial disorders
Gene: PDHX
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 Lacticacidemia due to PDX1 deficiency to Lacticacidemia due to PDX1 deficiency, OMIM:245349
Victorian Clinical Genetics Services was added to PDHX. Panel: Mitochondrial disorders
This gene has been classified as Green List (High Evidence).
Phenotypes for PDHX were set to Lacticacidemia due to PDX1 deficiency
Publications for PDHX were set to
Mode of inheritance for PDHX was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
PDHX was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert Review
This proposed gene was validated and added to this panel
PDHX was added to All recognised syndromes and those with suggestive featurespanel. Sources: Other