Congenital Heart Defect
Gene: CHD7EnsemblGeneIds (GRCh38): ENSG00000171316
EnsemblGeneIds (GRCh37): ENSG00000171316
OMIM: 608892, Gene2Phenotype
CHD7 is in 23 panels
1 review
Purvi Kakadiya (Other)
De novo mutations in chromodomain helicase DNA binding protein 7 (CHD7) are cause of CHARGE syndrome (MIM# 214800). The clinical phenotype of CHARGE syndrome is highly variable including a wide spectrum of congenital heart defects.
Thus, mutated CHD7 is associated with heart anomalies and therefore, CHD7 should be examined as part of genetic analysis (NGS gene panel) for congenital heart defect.Created: 23 Oct 2023, 3:24 a.m. | Last Modified: 23 Oct 2023, 3:25 a.m.
Panel Version: 0.295
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CHARGE syndrome (MIM# 214800)
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- CHARGE syndrome (MIM# 214800)
- OMIM
- 608892
- Clinvar variants
- Variants in CHD7
- Penetrance
- None
- Publications
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Combined Immunodeficiency
- Clefting disorders
- Lymphoedema_syndromic
- BabyScreen+ newborn screening
- Pituitary hormone deficiency
- Intellectual disability syndromic and non-syndromic
- Differences of Sex Development
- Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
- Primary Ovarian Insufficiency_Premature Ovarian Failure
- Craniosynostosis
- Deafness_Isolated
- Anophthalmia_Microphthalmia_Coloboma
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Choanal atresia
- Mendeliome
- Congenital diaphragmatic hernia
- Callosome
- Growth failure
- Cerebral Palsy
- Autism
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: chd7 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CHD7 were changed from to CHARGE syndrome (MIM# 214800)
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CHD7 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: CHD7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CHD7 was added gene: CHD7 was added to Congenital Heart Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CHD7 was set to Unknown