Likely inborn error of metabolism - targeted testing not possible
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 A nonsense mutation is reported in ClinVar (rs587779779) but appears unpublished.Created: 1 Jul 2015, 10:36 a.m.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
Ellen McDonagh: Comment on mode of pathogenici
Added phenotypes Leigh syndrome; Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency for gene: PET100 Publications for gene PET100 were changed from PMID: 24462369 to 24462369
gene: PET100 was added gene: PET100 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PET100 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PET100 were set to PMID: 24462369 Phenotypes for gene: PET100 were set to Leigh syndrome; Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency