Mitochondrial disorders
Gene: PET100
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: Confirmed on G2P and OMIM.Created: 12 Feb 2016, 11:35 a.m.
Comment on list classification: Both reviewers agree this gene should be promoted from red to green, and is a probable DD gene.Created: 12 Feb 2016, 11:34 a.m.
founder mutation in Lebanese individualsCreated: 4 Feb 2016, 9:11 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
rs587777839 has been observed in eight familes with mitochdondrial disorders, all of the same ancestry (PMID 24462369). The authors did functional studies to show overexpression of wild-type PET100 restored COX2 levels. A nonsense mutation is reported in ClinVar (rs587779779) but appears unpublished.Created: 1 Jul 2015, 10:36 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial Complex IV deficiency; Leigh syndrome
Publications
Victorian Clinical Genetics Services was added to PET100. Panel: Mitochondrial disorders
This gene has been classified as Green List (High Evidence).
Phenotypes for PET100 were set to Isolated complex IV deficiency; Mitochondrial complex IV deficiency, 220110; Leigh syndrome
Publications for PET100 were set to PMID: 24462369
Mode of inheritance for PET100 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
PET100 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
PET100 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
PET100 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen