Ocular colobomaGene: C5orf42
Added new-gene-name tag, new approved HGNC gene symbol is CPLANE1
Created: 21 Mar 2018, 12:30 p.m.
Comment on list classification: Expert recommendation to leave red as low frequency association
Created: 18 Jan 2017, 11:36 a.m.
On current diagnostic panel; positive families within our patient cohort. Evidence from the literature.
Created: 15 Mar 2016, 2:01 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome; Oral-facial-digital syndrome type VI
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).
C5orf42 was added to Ocular colobomapanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
C5orf42 was created by ellenmcdonagh
C5orf42 was added to Ocular colobomapanel. Sources: Expert Review