Ocular coloboma
Gene: CHD7EnsemblGeneIds (GRCh38): ENSG00000171316
EnsemblGeneIds (GRCh37): ENSG00000171316
OMIM: 608892, Gene2Phenotype
CHD7 is in 23 panels
2 reviews
David FitzPatrick (University of Edinburgh)
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
Maria Bitner-Glindzicz (UCL)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Literature
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- UKGTN
- Phenotypes
-
- CHARGE syndrome, 214800
- OMIM
- 608892
- Clinvar variants
- Variants in CHD7
- Penetrance
- Complete
- Publications
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
-
- Primary lymphoedema
- CAKUT
- VACTERL-like phenotypes
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Deafness and congenital structural abnormalities
- Unexplained kidney failure in young people
- DDG2P
- Hypogonadotropic hypogonadism (GMS)
- Ocular coloboma
- Intellectual disability
- Differences in sex development
- Monogenic short stature
- COVID-19 research
- Choanal atresia
- Clefting
- Unexplained young onset end-stage renal disease - additional genes
- Hypogonadotropic hypogonadism
- IUGR and IGF abnormalities
- Structural eye disease
- Monogenic hearing loss
- Fetal anomalies
- Pituitary hormone deficiency
- Rare syndromic craniosynostosis or isolated multisuture synostosis
History Filter Activity
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on 6th February 2016 by Alice Gardham
Set mode of pathogenicity
Alice Gardham (Genomics England)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
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set publications
Alice Gardham (Genomics England)Publications for CHD7 were set to 16400610
Set Phenotypes
Alice Gardham (Genomics England)Phenotypes for CHD7 were set to CHARGE syndrome, 214800
Upload gene information
Alice Gardham (Genomics England)CHD7 was added to Ocular colobomapanel. Sources: UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Literature
Set Mode of Inheritance
Alice Gardham (Genomics England)Model of inheritance for gene CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)CHD7 was added to Ocular colobomapanel. Sources: UKGTN