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Mitochondrial disease

Gene: OXA1L

Amber List (moderate evidence)
OXA1L (OXA1L, mitochondrial inner membrane protein)
EnsemblGeneIds (GRCh38): ENSG00000155463
EnsemblGeneIds (GRCh37): ENSG00000155463
OMIM: 601066, Gene2Phenotype
OXA1L is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

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.
Sources: NHS GMS
Created: 23 Mar 2020, 12:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Encephalopathy; hypotonia; developmental delay

Publications

Created: 23 Mar 2020, 12:11 a.m.

Panel version: Imported from Mendeliome panel version 0.1809

Bryony Thompson (Royal Melbourne Hospital)

I don't know

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.
Sources: NHS GMS
Created: 22 Mar 2020, 5:01 a.m. | Last Modified: 22 Mar 2020, 5:03 a.m.
Panel Version: 0.297

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
encephalopathy; hypotonia; developmental delay

Publications

Created: 22 Mar 2020, 5:01 a.m.
Last Modified: 22 Mar 2020, 5:03 a.m.
Panel version: 0.297

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review Amber
  • NHS GMS
  • NHS GMS
Phenotypes
  • encephalopathy
  • hypotonia
  • developmental delay
OMIM
601066
Clinvar variants
Variants in OXA1L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

22 Mar 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: OXA1L was added gene: OXA1L was added to Mitochondrial disease. Sources: 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 encephalopathy; hypotonia; developmental delay Review for gene: OXA1L was set to AMBER