Mitochondrial disorders
Gene: OXA1LEnsemblGeneIds (GRCh38): ENSG00000155463
EnsemblGeneIds (GRCh37): ENSG00000155463
OMIM: 601066, Gene2Phenotype
OXA1L is in 4 panels
4 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
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
Zornitza Stark (Australian Genomics)
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
Ellen McDonagh (Genomics England Curator)
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
Shamima Rahman (UCL Institute of Child Health)
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- No OMIM phenotype
- OMIM
- 601066
- Clinvar variants
- Variants in OXA1L
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: oxa1l has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: oxa1l has been classified as Amber List (Moderate Evidence).
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: OXA1L were set to
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: OXA1L was changed from to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: oxa1l has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)OXA1L was added to All recognised syndromes and those with suggestive featurespanel. Sources: Radboud University Medical Center, Nijmegen