Ocular colobomaGene: CEP41
Comment on list classification: Expert recommendation to leave red as low frequency association
Created: 18 Jan 2017, 11:37 a.m.
On current diagnostic panel; no positive families to date. Evidence from literature.
Created: 15 Mar 2016, 2:07 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).
CEP41 was added to Ocular colobomapanel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
CEP41 was added to Ocular colobomapanel. Sources: Expert Review
CEP41 was created by ellenmcdonagh