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  3. OXA1L
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Mitochondrial disorder with complex IV deficiency

Gene: OXA1L

Amber List (moderate evidence)
OXA1L (OXA1L, mitochondrial inner membrane protein)
EnsemblGeneIds (GRCh38): ENSG00000155463
EnsemblGeneIds (GRCh37): ENSG00000155463
OMIM: 601066, Gene2Phenotype
OXA1L is in 4 panels

3 reviews

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 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.
Created: 25 Feb 2019, 5:06 p.m.

Panel version: 0.6

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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

Created: 1 Feb 2019, 4:34 p.m.

Panel version: 0.3

Shamima Rahman (UCL Institute of Child Health)

I don't know

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.
Created: 4 Feb 2016, 8:45 p.m.

Panel version: Imported from Mitochondrial disorders panel version 0.16

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
OMIM
601066
Clinvar variants
Variants in OXA1L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Feb 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: oxa1l has been classified as Amber List (Moderate Evidence).

25 Feb 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: oxa1l has been classified as Amber List (Moderate Evidence).

1 Feb 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

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