Mitochondrial disorder with complex IV deficiency
Gene: PET117Comment on list classification: Confirmed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019 that this gene should be Amber on this panel due to the evidence level; only a single family report has been published.Created: 25 Feb 2019, 5:08 p.m.
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. Gene Symbol submitted: PET117; Suggested intial gene rating: Green; Information provided: Mode of inheritance and publication.Created: 1 Feb 2019, 4:34 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
No OMIM phenotype
Publications
Phenotypes for gene: PET117 were changed from No OMIM phenotype to Mitochondrial complex IV deficiency, nuclear type 19, OMIM:619063
Gene: pet117 has been classified as Amber List (Moderate Evidence).
Gene: pet117 has been classified as Amber List (Moderate Evidence).
gene: PET117 was added gene: PET117 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PET117 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PET117 were set to 28386624 Phenotypes for gene: PET117 were set to No OMIM phenotype