Optic neuropathy
Gene: TMEM126AA 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
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
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.
Publications for gene: TMEM126A were set to 19327736; 20405026; 22815638; 30961538
Gene: tmem126a has been classified as Green List (High Evidence).
Publications for gene: TMEM126A were set to 19327736; 20405026; 22815638
Gene: tmem126a has been classified as Amber List (Moderate Evidence).
Tag founder-effect tag was added to gene: TMEM126A.
Phenotypes for gene: TMEM126A were changed from Optic Atrophy, Recessive to Optic Atrophy, Recessive; Optic atrophy 7, 612989
Source London North GLH was added to TMEM126A.
13.09.2016: 'Inherited optic neuropathies' was removed as a relevant disorder from the Posterior segment abnormalities gene panel (version 1.9) and this panel was approved to live. It has been internally reviewed and revised based on evidence available for each gene, and was promoted to version 1 to be used for analysis.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Publications for TMEM126A were set to 19327736; 20405026; 22815638
This gene has been classified as Amber List (Moderate Evidence).
TMEM126A was added to Inherited optic neuropathiespanel. Sources: Expert
TMEM126A was added to Inherited optic neuropathies panel. Sources: Radboud University Medical Center, Nijmegen
TMEM126A was added to Inherited optic neuropathies panel. Sources: Emory Genetics Laboratory
TMEM126A was added to Inherited optic neuropathies panel. Sources: Illumina TruGenome Clinical Sequencing Services