This Panel is marked as Deleted
Immunological disorders Victorian Clinical Genetics Services
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
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 608892
- Clinvar variants
- Variants in CHD7
- Penetrance
- None
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Structural eye disease
- Unexplained young onset end-stage renal disease - additional genes
- Pituitary hormone deficiency
- Clefting
- Primary lymphoedema
- VACTERL-like phenotypes
- CAKUT
- Deafness and congenital structural abnormalities
- DDG2P
- COVID-19 research
- Monogenic short stature
- Fetal anomalies
- Choanal atresia
- Ocular coloboma
- Monogenic hearing loss
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Hypogonadotropic hypogonadism (GMS)
- Unexplained kidney failure in young people
- Hypogonadotropic hypogonadism
- IUGR and IGF abnormalities
- Intellectual disability
- Differences in sex development
History Filter Activity
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)CHD7 was added to Immunological disorders Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)CHD7 was created by Sarah Leigh