Ocular colobomaGene: TMEM216
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 G2P
Created: 1 Dec 2016, 10:56 a.m.
On current diagnostic panel; positive families in patient cohort. Evidence from the literature.
Common Ashkenazi Jewish variant.
Created: 16 Mar 2016, 3:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome: Meckel-Gruber syndrome
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).
TMEM216 was added to Ocular colobomapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory
TMEM216 was added to Ocular colobomapanel. Sources: Expert Review
TMEM216 was created by ellenmcdonagh