Choanal atresia
Gene: CHD7EnsemblGeneIds (GRCh38): ENSG00000171316
EnsemblGeneIds (GRCh37): ENSG00000171316
OMIM: 608892, Gene2Phenotype
CHD7 is in 23 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotypes in OMIM and G2P. Numerous variants reported in CHARGE syndrome, 214800Created: 10 Aug 2016, 1:37 p.m.
Comment on phenotypes: Variants also reported in Hypogonadotropic hypogonadism 5 with or without anosmia, 612370 and may be associated with Scoliosis, idiopathic 3, 608765Created: 10 Aug 2016, 1:36 p.m.
Jill Clayton-Smith (Manchester Centre For Genomic Medicine)
Variable expression. High evidenceCreated: 13 Oct 2015, 11:05 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
choanal atresia; congenital heart disease; coloboma; renal malformations; genital anomalies; facial palsy, abnormal ear helix; poor growth, hearing loss, limb defects
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Eligibility statement prior genetic testing
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- CHARGE syndrome, 214800
- OMIM
- 608892
- Clinvar variants
- Variants in CHD7
- Penetrance
- Complete
- Panels with this gene
-
- Primary lymphoedema
- CAKUT
- VACTERL-like phenotypes
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Deafness and congenital structural abnormalities
- Unexplained kidney failure in young people
- DDG2P
- Intellectual disability
- Hypogonadotropic hypogonadism (GMS)
- Ocular coloboma
- Differences in sex development
- Monogenic short stature
- COVID-19 research
- Choanal atresia
- Clefting
- Unexplained young onset end-stage renal disease - additional genes
- Hypogonadotropic hypogonadism
- IUGR and IGF abnormalities
- Structural eye disease
- Monogenic hearing loss
- Fetal anomalies
- Pituitary hormone deficiency
- Rare syndromic craniosynostosis or isolated multisuture synostosis
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1, 11th August 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for CHD7 were set to CHARGE syndrome, 214800
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for CHD7 were set to CHARGE syndrome, 214800; Hypogonadotropic hypogonadism 5 with or without anosmia, 612370{Scoliosis, idiopathic 3}, 608765; CHARGE Syndrome; CHARGE syndrome
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for CHD7 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added New Source
Ellen McDonagh (Genomics England Curator)CHD7 was added to Choanal atresiapanel. Sources: Eligibility statement prior genetic testing
Added New Source
GEL ()CHD7 was added to Choanal atresiapanel. Sources: Emory Genetics Laboratory
Added New Source
GEL ()CHD7 was added to Choanal atresiapanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
GEL ()CHD7 was added to Choanal atresiapanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()CHD7 was added to Choanal atresiapanel. Sources: UKGTN