Ocular colobomaGene: BMP4
In our unpublished data from the Edinburgh eye malformation cohort we have seen several BMP4 mutations that do not segregate with the coloboma in familial cases. Some of the original reported cases had deletions that also encompassed OTX2 so that was probably the cause of the problem
Created: 2 Feb 2017, 10:12 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity
Promoted to version 1 on 6th February 2016 by Alice Gardham
This gene has been classified as Green List (High Evidence).
BMP4 was added to Ocular colobomapanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN
BMP4 was created by agardham