CHARGE syndrome
Gene: CHD7EnsemblGeneIds (GRCh38): ENSG00000171316
EnsemblGeneIds (GRCh37): ENSG00000171316
OMIM: 608892, Gene2Phenotype
CHD7 is in 23 panels
10 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Overall rating definedCreated: 23 Aug 2019, 1:32 p.m. | Last Modified: 23 Aug 2019, 1:32 p.m.
Panel Version: 0.6
Test commentsCreated: 23 Aug 2019, 1:29 p.m. | Last Modified: 23 Aug 2019, 1:29 p.m.
Panel Version: 0.5
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Illumina (Gene-Disease curation)
Validity - Definitive.Created: 23 Aug 2019, 1:10 p.m. | Last Modified: 23 Aug 2019, 1:10 p.m.
Panel Version: 0.3
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CHARGE syndrome 214800
Invitae (Gene-Disease curation)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ambry Genetics (Gene-Disease curation)
Mode of inheritance
Unknown
Myriad Genetics (Gene-Disease curation)
Mode of inheritance
Unknown
Gene 2Phenotype (Decipher)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CHARGE SYNDROME
Orphanet (Gene-Disease relationships)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
OMIM (Johns Hopkins University)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CHARGE syndrome 214800
ClinGen (Gene-Disease Clinical Validity Curation)
Definitive. See the full report here: https://search.clinicalgenome.org/kb/gene-validity/26ae5799-567b-431b-b981-3bc2f8635802--2018-08-22T20:16:33Created: 23 Aug 2019, 1:10 p.m. | Last Modified: 23 Aug 2019, 1:10 p.m.
Panel Version: 0.3
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CHARGE syndrome; MONDO:0008965
Genomics England PanelApp (Gene-Disease curation)
This gene is Green on the following panels for the CHARGE phenotype: Choanal atresia Version 1.13, IUGR and IGF abnormalities Version 1.29, VACTERL-like phenotypes Version 1.24, Deafness and congenital structural abnormalities Version 1.17, Pituitary hormone deficiency Version 2.0, Hypogonadotropic hypogonadism Version 1.26, Primary immunodeficiency Version 1.42, Unexplained kidney failure in young people Version 1.73, Ocular coloboma Version 1.34, Disorders of sex development Version 2.0, CAKUT Version 1.39, Renal and urinary tract disorders Version 1.18, DDG2P Version 1.80, Hearing loss Version 1.127, Clefting Version 1.38, Intellectual disability Version 2.999.Created: 23 Aug 2019, 1:10 p.m. | Last Modified: 23 Aug 2019, 1:10 p.m.
Panel Version: 0.3
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CHARGE syndrome 214800
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Other
- Phenotypes
-
- CHARGE syndrome
- MONDO:0008965
- CHARGE syndrome 214800
- Tags
- OMIM
- 608892
- Clinvar variants
- Variants in CHD7
- Penetrance
- None
- Publications
- 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
Added Tag
Ellen McDonagh (Genomics England Curator)Tag refuted tag was added to gene: CHD7.
Set publications
Ellen McDonagh (Genomics England Curator)Publications for gene: CHD7 were set to
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene: CHD7 were changed from to CHARGE syndrome; MONDO:0008965; CHARGE syndrome 214800
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: chd7 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: chd7 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: CHD7 was added gene: CHD7 was added to CHARGE syndrome. Sources: Other Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted