This Panel is marked as Deleted
Immunological disorders_SuperPanel_PanelAppAustralia
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
- Mode of Inheritance
- Unknown
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Melbourne Genomics Health Alliance Immunology Flagship
- OMIM
- 608892
- Clinvar variants
- Variants in CHD7
- Penetrance
- None
- Panels with this gene
-
- VACTERL-like phenotypes
- Intellectual disability
- Clefting
- CAKUT
- Deafness and congenital structural abnormalities
- Primary lymphoedema
- Differences in sex development
- Hypogonadotropic hypogonadism (GMS)
- COVID-19 research
- Ocular coloboma
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Choanal atresia
- Structural eye disease
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Unexplained kidney failure in young people
- Hypogonadotropic hypogonadism
- Pituitary hormone deficiency
- IUGR and IGF abnormalities
- Monogenic short stature
- Unexplained young onset end-stage renal disease - additional genes
- Fetal anomalies
- DDG2P
- Monogenic hearing loss
History Filter Activity
7 Apr 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance
Rebecca Foulger (Genomics England curator)gene: CHD7 was added gene: CHD7 was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Melbourne Genomics Health Alliance Immunology Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CHD7 was set to Unknown