Ocular coloboma
Gene: CHD7
This is a very rare cause of isolated coloboma. We have not seen a single mutation in >500 cases screened - it is clearly a cause of coloboma as part of CHARGE syndromeCreated: 2 Feb 2017, 10:14 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Promoted to version 1 on 6th February 2016 by Alice Gardham
Mode of pathogenicity for CHD7 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
This gene has been classified as Green List (High Evidence).
Publications for CHD7 were set to 16400610
Phenotypes for CHD7 were set to CHARGE syndrome, 214800
CHD7 was added to Ocular colobomapanel. Sources: UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Literature
Model of inheritance for gene CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
CHD7 was added to Ocular colobomapanel. Sources: UKGTN