Ocular colobomaGene: INPP5E
Comment on list classification: Expert recommendation to leave red as low frequency association
Created: 18 Jan 2017, 11:38 a.m.
In current diagnostic panel; one positive family in our disease cohort. Evidence in the literature.
Created: 15 Mar 2016, 2:33 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).
INPP5E was added to Ocular colobomapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
INPP5E was added to Ocular colobomapanel. Sources: Expert Review
INPP5E was created by ellenmcdonagh