Ocular colobomaGene: TCTN3
Comment on list classification: Expert recommendation to leave red as low frequency association
Created: 18 Jan 2017, 11:44 a.m.
Comment on list classification: Only reported in three Joubert patients. Not recognised on G2P as causing Joubert.
Created: 1 Dec 2016, 10:52 a.m.
On current diagnostic panel; no positive families in patient cohort to date. Evidence in literature.
Created: 16 Mar 2016, 12:33 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome; Orofaciodigital syndrome IV
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 Amber List (Moderate Evidence).
TCTN3 was added to Ocular colobomapanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
TCTN3 was created by ellenmcdonagh
TCTN3 was added to Ocular colobomapanel. Sources: Expert Review