Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
Gene: CHD7EnsemblGeneIds (GRCh38): ENSG00000171316
EnsemblGeneIds (GRCh37): ENSG00000171316
OMIM: 608892, Gene2Phenotype
CHD7 is in 23 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
CAKUT is part of the phenotype.Created: 8 Mar 2024, 3:07 a.m. | Last Modified: 8 Mar 2024, 3:07 a.m.
Panel Version: 0.134
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CHARGE syndrome MIM#214800
Elena Savva (Victorian Clinical Genetics Services)
No clear genotype-phenotype correlation, same variants reported for both conditions
Missense mutations are generally associated with a milder phenotype and lower prevalence of choanal atresia, cleft lip and/or palate, and congenital heart defects (Review by Basson 2015)Created: 9 Apr 2021, 5:49 a.m. | Last Modified: 9 Apr 2021, 5:49 a.m.
Panel Version: 0.7091
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hypogonadotropic hypogonadism 5 with or without anosmia MIM#612370; CHARGE syndrome MIM#214800
Publications
- PMID: 26411921
Variants in this GENE are reported as part of current diagnostic practice
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
- 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 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 anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CHD7 was set to Unknown