Ocular colobomaGene: OFD1
Comment on list classification: Expert recommendation to leave red as low frequency association
Created: 18 Jan 2017, 11:40 a.m.
On current diagnostic panel; positive families within patient cohort. Evidence from literature.
Created: 16 Mar 2016, 9:07 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
X-linked Joubert syndrome; Oral-facial-digital syndrome I
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).
OFD1 was added to Ocular colobomapanel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
OFD1 was added to Ocular colobomapanel. Sources: Expert Review
OFD1 was created by ellenmcdonagh