Likely inborn error of metabolism

Gene: TMEM126A

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

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

• 27604308

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal