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Mitochondrial disease

Gene: TMEM126A

Green List (high evidence)

TMEM126A (transmembrane protein 126A)
EnsemblGeneIds (GRCh38): ENSG00000171202
EnsemblGeneIds (GRCh37): ENSG00000171202
OMIM: 612988, Gene2Phenotype
TMEM126A is in 6 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of complex I subunits and assembly factors
  • autosomal recessive optic atrophy, OPA7 type MONDO:0013069
OMIM
612988
Clinvar variants
Variants in TMEM126A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 May 2024, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: TMEM126A was added gene: TMEM126A was added to Mitochondrial disease. Sources: Expert Review Green Mode of inheritance for gene: TMEM126A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM126A were set to 29884839; 33879611 Phenotypes for gene: TMEM126A were set to Disorders of complex I subunits and assembly factors; autosomal recessive optic atrophy, OPA7 type MONDO:0013069