VACTERL-like phenotypes
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
2 reviews
Muriel Holder (Clinical Genetics, Guy's Hospital)
Ellen Thomas (Genomics England Curator)
Comment on list classification: CHARGE syndrome is an important differential for VACTERLCreated: 27 May 2016, 11:26 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- CHARGE syndrome
- OMIM
- 608892
- Clinvar variants
- Variants in CHD7
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- VACTERL-like phenotypes
- Monogenic hearing loss
- CAKUT
- Differences in sex development
- Deafness and congenital structural abnormalities
- Primary immunodeficiency or monogenic inflammatory bowel disease
- COVID-19 research
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Primary lymphoedema
- Clefting
- Choanal atresia
- Ocular coloboma
- Unexplained young onset end-stage renal disease - additional genes
- Pituitary hormone deficiency
- Unexplained kidney failure in young people
- Monogenic short stature
- Hypogonadotropic hypogonadism
- Fetal anomalies
- Structural eye disease
- IUGR and IGF abnormalities
- Hypogonadotropic hypogonadism (GMS)
- DDG2P
History Filter Activity
27 May 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
27 May 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
16 Nov 2015, Gel status: 0
Added New Source
Muriel Holder (Clinical Genetics, Guy's Hospital)CHD7 was added to VACTERL-like phenotypespanel. Sources: Literature
16 Nov 2015, Gel status: 0
Created
Muriel Holder (Clinical Genetics, Guy's Hospital)CHD7 was created by mholder