Ocular colobomaGene: TMEM138
Comment on list classification: Expert recommendation to leave red as low frequency association
Created: 18 Jan 2017, 11:42 a.m.
Comment when marking as ready: Recognised on genereviews but not G2P
Created: 1 Dec 2016, 10:55 a.m.
On current diagnostic panel; positive families within patient cohort. Evidence from literature.
Created: 16 Mar 2016, 1:46 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Promoted to version 1 on 6th February 2016 by Alice Gardham
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Green List (High Evidence).
TMEM138 was added to Ocular colobomapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen
TMEM138 was added to Ocular colobomapanel. Sources: Expert Review
TMEM138 was created by ellenmcdonagh