Unexplained young onset end-stage renal disease - additional genes
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
5 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
This gene has been added to this panel with green rating as it was present in R257 Unexplained young onset end-stage renal disease panel (v5.1) with the same rating before it was made a super panel.Created: 25 Sep 2024, 9:36 p.m. | Last Modified: 25 Sep 2024, 9:36 p.m.
Panel Version: 0.65
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Eleanor Williams (Genomics England Curator)
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of GreenCreated: 9 Apr 2019, 11:17 a.m.
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, OMIM:214800
- OMIM
- 608892
- Clinvar variants
- Variants in CHD7
- Penetrance
- None
- 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
27 Sep 2024, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: CHD7 were changed from CHARGE syndrome 214800 to CHARGE syndrome, OMIM:214800
27 Sep 2024, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Added phenotypes CHARGE syndrome 214800 for gene: CHD7
25 Sep 2024, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)gene: CHD7 was added gene: CHD7 was added to Unexplained young onset end-stage renal disease - additional genes. 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 214800