Optic neuropathy

Gene: TMEM126A

A missense recessive variant reported in an Italian proband with optic atrophy and deafness (PMID 31119195). "Founder" tag has therefore been removed from this gene.

Created: 30 Sep 2019, 9:54 a.m. | Last Modified: 30 Sep 2019, 9:54 a.m.

Panel Version: 1.120

Publications

• 31119195

Comment on list classification: Promoted from amber to green based on the additional on case that was found (PMID: 30961538).

Created: 3 May 2019, 12:35 p.m.

PMID: 30961538 describes a study of 3 affected individuals from 2 unrelated families. A Turkish patient with optic atrophy has a homozygous splice donor variant (c.86+2 T<C) in TMEM126A. Two Iraqi siblings with optic atrophy were found to have a homozygous missense variant (p.S36L) in TMEM126A.

Created: 3 May 2019, 12:34 p.m.

Comment on list classification: Promoted from red to amber. TMEM126A is associated with a phenotype in OMIM but not Gene2Phenotype. There are 3 publications (PMID: 19327736, 20405026, 22815638) reporting on unrelated patients with optic atrophy who have the same variant (c.163C>T, p.R55X) who are from Algeria, Morocco and Tunisia. Haplotype analysis was consistent with a founder affect (PMID: 19327736). Based on this, it was decided that there is not enough evidence to promote it to green.

Created: 26 Mar 2019, 10:02 a.m.

Publications

• 30961538

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Optic Atrophy, Recessive

Publications

• 19327736
• 20405026
• 22815638

Variants in this GENE are reported as part of current diagnostic practice

Seems to be only variant reported so far in patients with optic atrophy and auditory neuropathy (3 seperate publications), with a likely founder effect.

Created: 7 Sep 2016, 7:45 a.m.