Ocular colobomaGene: CEP290
Comment on list classification: Expert recommendation to leave red as low frequency association
Created: 18 Jan 2017, 11:37 a.m.
Positives within our diagnostic patient cohort. Evidence in literature.
Created: 15 Mar 2016, 10:31 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Relevant phenotype and mode of inheritance was sourced from OMIM.
Created: 8 Jan 2016, 11:36 a.m.
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).
CEP290 was added to Ocular colobomapanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
CEP290 was created by ellenmcdonagh
CEP290 was added to Ocular colobomapanel. Sources: Other