Likely inborn error of metabolism - targeted testing not possible
Gene: TMEM126AComment 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 panelCreated: 30 Sep 2019, 9:44 a.m. | Last Modified: 30 Sep 2019, 9:44 a.m.
Panel Version: 1.315
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 criteriaCreated: 23 Feb 2017, 5:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Optic atrophy 7; 612989
Publications
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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
Gene: tmem126a has been classified as Red List (Low Evidence).
Publications for gene: TMEM126A were set to 27604308
Source NHS GMS was added to TMEM126A. Source London North GLH was added to TMEM126A.
Sarah Leigh: Associated with phenotype in O
Added phenotypes Optic atrophy-7, 612989 for gene: TMEM126A
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