Mitochondrial disorders
Gene: OXA1L
Comment on list classification: As reviewed by Zornitza Stark, there is a single family and functional evidence available in support of the association of OXA1L to this panel. Hence, this gene should be promoted to amber.Created: 10 Jan 2024, 2:18 p.m. | Last Modified: 10 Jan 2024, 2:18 p.m.
Panel Version: 4.149
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Single family reported with biochemical and molecular analyses of patient skeletal muscle and fibroblasts. In vitro functional assays in human cell lines, Drosophila model, and yeast-based assays. Loss of function affects oxidative phosphorylation complexes IV and V. Gene is Amber on other mito panels here.Created: 23 Mar 2020, 12:08 a.m. | Last Modified: 23 Mar 2020, 12:08 a.m.
Panel Version: 2.5
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
encephalopathy; hypotonia; developmental delay
Publications
Comment on list classification: Confirmed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019 that this gene only has a single family report.Created: 25 Feb 2019, 5:07 p.m.
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).
Publications for gene: OXA1L were set to
Mode of inheritance for gene: OXA1L was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: oxa1l has been classified as Red List (Low Evidence).
OXA1L was added to All recognised syndromes and those with suggestive featurespanel. Sources: Radboud University Medical Center, Nijmegen