Unexplained kidney failure in young people
Gene: CHD7EnsemblGeneIds (GRCh38): ENSG00000171316
EnsemblGeneIds (GRCh37): ENSG00000171316
OMIM: 608892, Gene2Phenotype
CHD7 is in 23 panels
1 review
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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Expert Review
- Phenotypes
-
- CHARGE syndrome 214800
- OMIM
- 608892
- Clinvar variants
- Variants in CHD7
- Penetrance
- Complete
- Panels with this gene
-
- VACTERL-like phenotypes
- Clefting
- CAKUT
- Intellectual disability
- Deafness and congenital structural abnormalities
- Primary lymphoedema
- Differences in sex development
- Hypogonadotropic hypogonadism (GMS)
- COVID-19 research
- Ocular coloboma
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Choanal atresia
- Fetal anomalies
- Structural eye disease
- Monogenic hearing loss
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Unexplained kidney failure in young people
- Hypogonadotropic hypogonadism
- Pituitary hormone deficiency
- IUGR and IGF abnormalities
- Monogenic short stature
- Unexplained young onset end-stage renal disease - additional genes
- DDG2P
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: CHD7 were changed from CHARGE syndrome 214800 to CHARGE syndrome 214800
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 17th August 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for CHD7 were set to CHARGE syndrome 214800
Upload gene information
Sarah Leigh (Genomics England Curator)CHD7 was added to Unexplained kidney failure in young peoplepanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for CHD7 were set to CHARGE syndrome 214800
Added New Source
Sarah Leigh (Genomics England Curator)CHD7 was added to Unexplained kidney failure in young peoplepanel. Sources: Expert Review,Expert Review Green
Created
Sarah Leigh (Genomics England Curator)CHD7 was created by sleigh