Structural eye disease
Gene: CHD7EnsemblGeneIds (GRCh38): ENSG00000171316
EnsemblGeneIds (GRCh37): ENSG00000171316
OMIM: 608892, Gene2Phenotype
CHD7 is in 23 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
DB Many families with microphthalmia/coloboma published, many of which have missense variantsCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CHARGE syndrome, 214800
Publications
Mode of pathogenicity
Other - please provide details in the comments
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Many families with microphthalmia/coloboma published, many of which have missense variantsCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CHARGE syndrome, 214800
Publications
Mode of pathogenicity
Other - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- CHARGE syndrome, 214800
- OMIM
- 608892
- Clinvar variants
- Variants in CHD7
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
-
- VACTERL-like phenotypes
- CAKUT
- Monogenic hearing loss
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Deafness and congenital structural abnormalities
- Primary lymphoedema
- Differences in sex development
- Hypogonadotropic hypogonadism (GMS)
- COVID-19 research
- Clefting
- Ocular coloboma
- Structural eye disease
- Monogenic short stature
- Choanal atresia
- Unexplained kidney failure in young people
- Intellectual disability
- Hypogonadotropic hypogonadism
- IUGR and IGF abnormalities
- Unexplained young onset end-stage renal disease - additional genes
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- DDG2P
- Pituitary hormone deficiency
History Filter Activity
Added New Source, Set mode of pathogenicity, Set Phenotypes
Ivone Leong (Genomics England Curator)Source NHS GMS was added to CHD7. Mode of pathogenicity for gene CHD7 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Other - please provide details in the comments Added phenotypes CHARGE syndrome, 214800 for gene: CHD7
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)gene: CHD7 was added gene: CHD7 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHD7 were set to 16400610 Phenotypes for gene: CHD7 were set to CHARGE syndrome, 214800 Mode of pathogenicity for gene: CHD7 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments