Undiagnosed metabolic disordersGene: TMEM126A
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, 9:43 a.m. | Last Modified: 30 Sep 2019, 9:43 a.m.
Panel Version: 1.347
Comment on phenotypes: Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Created: 30 Sep 2019, 9:29 a.m. | Last Modified: 30 Sep 2019, 9:29 a.m.
Panel Version: 1.346
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
Optic atrophy 7; 612989
Gene: tmem126a has been classified as Red List (Low Evidence).
Phenotypes for gene: TMEM126A were changed from Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Optic atrophy 7; 612989 to Optic atrophy 7 612989
Publications for gene: TMEM126A were set to 27604308
Construction of “Undiagnosed Metabolic Disorders” (UDM) panel • The 614 genes from the neurometabolic gene panel (PMID: 27604308) added • Green genes downloaded from V1 metabolic panels (Cerebral folate deficiency, Congenital disorders of glycosylation, Hyperammonaemia, Ketotic hypoglycaemia, Mitochondrial disorders, Mucopolysaccharideosis, Gaucher, Fabry, Peroxisomal disorders), sources replaced with "Expert review green", then loaded as a review onto UDM panel, resulting in 367 green genes and 333 red (therefore 86 new green genes included from the additional metabolic panels that weren't previously on the UDM panel) • Downloaded green genes from all panels. Removed genes from none V1 panels. Removed genes from the metabolic panels mentioned above. Compared the remaining genes with the red genes from UDM panel. Loaded as an "Expert review Amber" review to the overlapping genes, (the panel name where the genes came from was used as the phenotype) • Used variant information from PMID 27604308 to review the genes on this panel • Reviewed genes on UDM panel with genes from Emory "Inherited Metabolic Disorders: Sequencing Panel" and UKGTN “Inborn Errors of Metabolism 226 panel”, changing status where appropriate, added 14 UKGTN genes that had not be listed before • Review 10 red genes that had not previously been reviewed, 4/10 were reclassified as green • Review the remaining 145 red genes that had not previously been reviewed (shared between reviewers EM, RF, LD, AT, HB, ON & SL), resulting in 60 green, 11 amber, 70 red, 4 I don’t know reviews) • Reviewed genes from PMID: 24816252 as a publication to genes found in the Inborn error or metabolism Genes metabolomics GWAS paper (figure 5). 2 new genes added
TMEM126A was added to Undiagnosed metabolic disorderspanel. Source: Expert Review Red Model of inheritance for gene TMEM126A was set to BIALLELIC, autosomal or pseudoautosomal
TMEM126A was created by sleigh
TMEM126A was added to Undiagnosed metabolic disorderspanel. Sources: Literature