Ocular colobomaGene: TMEM231
Comment when marking as ready: Not recognised on G2P. Listed on GeneReviews. Only three published families
Created: 1 Dec 2016, 11:01 a.m.
On current diagnostic panel; no positive families in patient cohort to date. Evidence from literature.
Created: 16 Mar 2016, 3:30 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).
TMEM231 was added to Ocular colobomapanel. Sources: Radboud University Medical Center, Nijmegen,Expert Review
TMEM231 was added to Ocular colobomapanel. Sources: Expert Review
TMEM231 was created by ellenmcdonagh