Mitochondrial disorder with complex IV deficiency
Gene: OXA1LComment 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, 5:06 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: OXA1L; 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
no mutation reports in literature; good candidate gene for complex IV deficiency (encodes a known assembly factor of the enzyme)Created: 4 Feb 2016, 8:45 p.m.
Gene: oxa1l has been classified as Amber List (Moderate Evidence).
Gene: oxa1l has been classified as Amber List (Moderate Evidence).
gene: OXA1L was added gene: OXA1L was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: OXA1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OXA1L were set to 30201738 Phenotypes for gene: OXA1L were set to No OMIM phenotype