Ocular colobomaGene: KIF7
Comment on list classification: Expert recommendation to leave red as low frequency association
Created: 18 Jan 2017, 11:38 a.m.
On current diagnostic panel; no positive families in patient cohort to date. Evidence in literature.
Created: 15 Mar 2016, 2:43 p.m.
Joubert syndrome; Acrocallosal syndrome; Hydrolethalus 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).
KIF7 was added to Ocular colobomapanel. Sources: Emory Genetics Laboratory,UKGTN,Radboud University Medical Center, Nijmegen
KIF7 was added to Ocular colobomapanel. Sources: Expert Review
KIF7 was created by ellenmcdonagh