This Panel is marked as Internal
Renal and urinary tract disorders
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
3 reviews
Helen Stuart (University of Manchester)
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 4 Aug 2016, 11:30 a.m.
Comment on phenotypes: Also associated with hypogonadotropic hypogonadism 5 with or without anosmia 612370Created: 4 Aug 2016, 11:29 a.m.
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 214800
- OMIM
- 608892
- Clinvar variants
- Variants in CHD7
- Penetrance
- None
- 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
- Hypogonadotropic hypogonadism (GMS)
- COVID-19 research
- Clefting
- Ocular coloboma
- Differences in sex development
- 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
30 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Ellen McDonagh: Comment on list classification
30 Jan 2019, Gel status: 4
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: CHD7 were changed from CHARGE syndrome to CHARGE syndrome 214800
20 Dec 2018, Gel status: 4
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes CHARGE syndrome for gene: CHD7
20 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: CHD7 was added gene: CHD7 was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CHD7 were set to CHARGE syndrome