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Inborn errors of metabolism

Gene: OXA1L

Red List (low evidence)

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

2 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 only has a single family report.
Created: 25 Feb 2019, 5:07 p.m.

Publications

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.

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
OMIM
601066
Clinvar variants
Variants in OXA1L
Penetrance
None
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: OXA1L was added gene: OXA1L was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: OXA1L was set to Unknown Phenotypes for gene: OXA1L were set to No OMIM phenotype