Lymphoedema_syndromic
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
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Cannot find specific association between CHARGE syndrome and lymphoedema or hydrops.Created: 27 Mar 2020, 10:17 p.m. | Last Modified: 27 Mar 2020, 10:17 p.m.
Panel Version: 0.0
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CHARGE syndrome, MIM# 214800
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- CHARGE syndrome 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
27 Mar 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: chd7 has been classified as Red List (Low Evidence).
27 Mar 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: chd7 has been classified as Red List (Low Evidence).
29 Jan 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sue White (Victorian Clinical Genetics Services)gene: CHD7 was added gene: CHD7 was added to Lymphoedema_syndromic. Sources: Expert list,Expert Review Green Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CHD7 were set to 16155193; 15300250; 16400610 Phenotypes for gene: CHD7 were set to CHARGE syndrome 214800