1. Panels
  2. Molecular autopsy
  3. TMEM126A
Genes in panel
Prev Next
STRs in panel
Prev Next

Molecular autopsy

Gene: TMEM126A

Red List (low evidence)
TMEM126A (transmembrane protein 126A)
EnsemblGeneIds (GRCh38): ENSG00000171202
EnsemblGeneIds (GRCh37): ENSG00000171202
OMIM: 612988, Gene2Phenotype
TMEM126A is in 8 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Optic atrophy-7, 612989
  • Optic atrophy 7
  • 612989
OMIM
612988
Clinvar variants
Variants in TMEM126A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Dec 2018, Gel status: 1

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: TMEM126A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

20 Dec 2018, Gel status: 1

Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene TMEM126A was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown Added phenotypes Optic atrophy-7, 612989 for gene: TMEM126A

20 Dec 2018, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Optic atrophy-7, 612989; Optic atrophy 7; 612989 for gene: TMEM126A

20 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: TMEM126A was added gene: TMEM126A was added to Molecular autopsy. Sources: Expert Review Red Mode of inheritance for gene: TMEM126A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM126A were set to 27604308 Phenotypes for gene: TMEM126A were set to Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Optic atrophy-7, 612989; Optic atrophy 7; 612989