Differences in sex development
Gene: CHD7EnsemblGeneIds (GRCh38): ENSG00000171316
EnsemblGeneIds (GRCh37): ENSG00000171316
OMIM: 608892, Gene2Phenotype
CHD7 is in 23 panels
2 reviews
Ivone Leong (Genomics England Curator)
As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 29 Apr 2019, 9:46 a.m.
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 14 variants reported.Created: 28 Nov 2016, 10:51 a.m.
Comment on phenotypes: Also associated with Hypogonadotropic hypogonadism 5 with or without anosmia, 612370 and Scoliosis, idiopathic 3, 608765Created: 28 Nov 2016, 10:44 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- OMIM
- Phenotypes
-
- CHARGE syndrome, 214800
- OMIM
- 608892
- Clinvar variants
- Variants in CHD7
- Penetrance
- Complete
- Panels with this gene
-
- Structural eye disease
- Monogenic hearing loss
- Fetal anomalies
- Pituitary hormone deficiency
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Primary lymphoedema
- Intellectual disability
- CAKUT
- VACTERL-like phenotypes
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Hypogonadotropic hypogonadism (GMS)
- Deafness and congenital structural abnormalities
- Unexplained kidney failure in young people
- DDG2P
- Ocular coloboma
- Differences in sex development
- Clefting
- Monogenic short stature
- COVID-19 research
- Choanal atresia
- Unexplained young onset end-stage renal disease - additional genes
- Hypogonadotropic hypogonadism
- IUGR and IGF abnormalities
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to V1 21/12/2016
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 gene CHD7 were set to Hypogonadotropic hypogonadism 5 with or without anosmia, 612370; CHARGE syndrome, 214800; Scoliosis, idiopathic 3, 608765
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene CHD7 were set to Hypogonadotropic hypogonadism 5 with or without anosmia, 612370 CHARGE syndrome, 214800 Scoliosis, idiopathic 3, 608765
Created
Sarah Leigh (Genomics England Curator)CHD7 was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)CHD7 was added to Disorders of sex developmentpanel. Sources: OMIM,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services