CAKUT
Gene: CHD7
CHD7 (chromodomain helicase DNA binding protein 7)
EnsemblGeneIds (GRCh38): ENSG00000171316
EnsemblGeneIds (GRCh37): ENSG00000171316
OMIM: 608892, Gene2Phenotype
CHD7 is in 23 panels
EnsemblGeneIds (GRCh38): ENSG00000171316
EnsemblGeneIds (GRCh37): ENSG00000171316
OMIM: 608892, Gene2Phenotype
CHD7 is in 23 panels
2 reviews
Helen Stuart (University of Manchester)
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Gene added by reviewer. This is a confirmed DD gene for CHARGE syndrome.Created: 22 Apr 2016, 11:38 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- CHARGE syndrome
- OMIM
- 608892
- Clinvar variants
- Variants in CHD7
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- VACTERL-like phenotypes
- Fetal anomalies
- CAKUT
- Pituitary hormone deficiency
- Deafness and congenital structural abnormalities
- Monogenic short stature
- COVID-19 research
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Primary lymphoedema
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Choanal atresia
- Ocular coloboma
- Hypogonadotropic hypogonadism (GMS)
- Differences in sex development
- Unexplained kidney failure in young people
- Clefting
- Monogenic hearing loss
- Hypogonadotropic hypogonadism
- Structural eye disease
- IUGR and IGF abnormalities
- Unexplained young onset end-stage renal disease - additional genes
History Filter Activity
25 Apr 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
22 Apr 2016, Gel status: 2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
19 Oct 2015, Gel status: 0
Added New Source
Helen Stuart (University of Manchester)CHD7 was added to CAKUTpanel. Sources: Expert Review