Possible mitochondrial disorder - nuclear genes
Gene: PET117
Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, supporting the Amber rating of this gene on this panel based on current evidence.Created: 30 Aug 2022, 9:31 a.m. | Last Modified: 30 Aug 2022, 9:31 a.m.
Panel Version: 1.105
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex IV deficiency, nuclear type 19, OMIM: 619063
Publications
Variants in this GENE are reported as part of current diagnostic practice
Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: One family (2 sibs) with functional studiesCreated: 10 May 2019, 1:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
No OMIM phenotype
Publications
Comment 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 has been published.Created: 29 Mar 2019, 4:39 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.Created: 4 Feb 2019, 1:36 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 was added gene: PET117 was added to Possible mitochondrial disorder - nuclear genes. 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