Possible mitochondrial disorder - nuclear genes
Gene: OXA1L
Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: One case 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 report has been published.Created: 25 Feb 2019, 5:32 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
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 was added gene: OXA1L was added to Possible mitochondrial disorder - nuclear genes. 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