Possible mitochondrial disorder - nuclear genes

Gene: PET100

Green List (high evidence)

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
Mitochondrial complex IV deficiency, 220110

Green List (high evidence)

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.

Green List (high evidence)

founder mutation in Lebanese individuals

Created: 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 A nonsense mutation is reported in ClinVar (rs587779779) but appears unpublished.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

• 24462369