Clefting
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
Helen Brittain (Genomics England Curator)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CHARGE SYNDROME
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- CHARGE SYNDROME
- OMIM
- 608892
- Clinvar variants
- Variants in CHD7
- Penetrance
- Complete
- Panels with this gene
-
- Hypogonadotropic hypogonadism (GMS)
- Unexplained kidney failure in young people
- Hypogonadotropic hypogonadism
- IUGR and IGF abnormalities
- Intellectual disability
- Differences in sex development
- Monogenic short stature
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Structural eye disease
- Unexplained young onset end-stage renal disease - additional genes
- Clefting
- Primary lymphoedema
- VACTERL-like phenotypes
- Monogenic hearing loss
- CAKUT
- Deafness and congenital structural abnormalities
- DDG2P
- COVID-19 research
- Choanal atresia
- Ocular coloboma
- Fetal anomalies
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Pituitary hormone deficiency
History Filter Activity
31 May 2017, Gel status: 4
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
26 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)CHD7 was created by ellenmcdonagh
26 May 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)CHD7 was added to Cleftingpanel. Sources: Expert Review Green