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Mendeliome

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

1 review

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

Details

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

History Filter Activity

23 Mar 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).

23 Mar 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).

23 Mar 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: OXA1L was added gene: OXA1L was added to Mendeliome. Sources: NHS GMS Mode of inheritance for gene: OXA1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OXA1L were set to 30201738; 16435202 Phenotypes for gene: OXA1L were set to Encephalopathy; hypotonia; developmental delay Review for gene: OXA1L was set to AMBER