Genes in panel
STRs in panel
Prev Next

Inborn errors of metabolism

Gene: TMEM126A

Red List (low evidence)

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

3 reviews

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Created: 30 Sep 2019, 9:45 a.m. | Last Modified: 30 Sep 2019, 9:45 a.m.
Panel Version: 1.316
Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with the phenotype Optic atrophy 7 612989 in OMIM, but not associated with phenotype in Gen2Phen. At least 2 variants reported in unrelated cases. The red rating is based on Helen Britain's opinion that, the phenotype of Optic atrophy 7 612989 will not present via a metabolic team. TMEM126A is green on the Optic neuropathy panel
Created: 30 Sep 2019, 9:44 a.m. | Last Modified: 30 Sep 2019, 9:44 a.m.
Panel Version: 1.315

Helen Brittain (Genomics England Curator)

Red List (low evidence)

Associated with Optic atrophy and hearing loss in 5 families, all of Moroccan / Algerian heritage and all with the same R55X variant. Not clearly a phenotype that will present via metabolic team therefore considered red for inclusion criteria
Created: 23 Feb 2017, 5:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Optic atrophy 7; 612989

Publications

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Optic atrophy 7 612989
OMIM
612988
Clinvar variants
Variants in TMEM126A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Sep 2019, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: TMEM126A were changed from Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Optic atrophy-7, 612989; Optic atrophy 7; 612989 to Optic atrophy 7 612989

30 Sep 2019, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: tmem126a has been classified as Red List (Low Evidence).

30 Sep 2019, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: TMEM126A were set to 27604308

13 Feb 2019, Gel status: 1

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to TMEM126A. Source London North GLH was added to TMEM126A.

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

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Optic atrophy-7, 612989 for gene: TMEM126A

16 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 Inborn errors of metabolism. 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