Hypogonadotropic hypogonadism
Gene: CHD7EnsemblGeneIds (GRCh38): ENSG00000171316
EnsemblGeneIds (GRCh37): ENSG00000171316
OMIM: 608892, Gene2Phenotype
CHD7 is in 23 panels
3 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Found in 4/4 sources. Two reviewers recommend green.Created: 26 May 2016, 7:38 a.m.
Richard Quinton (Newcastle University)
de novo large deletions tend to cause Autosomal Dominant CHARGE syndrome.
miss-sense mutations tend to be associated with IHH, sometimes in the context of oligogenicity
Created: 24 May 2016, 12:52 p.m.
Mode of inheritance
Other
Louise IZATT (GSTT Clinical Genetics Service)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
- OMIM
- Phenotypes
-
- Hypogonadotropic hypogonadism 5 with or without anosmia,612370
- CHARGE syndrome, 214800
- Scoliosis, idiopathic 3, 608765
- 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
Ellen McDonagh (Genomics England Curator)28th Oct 2016: This panel was revised after external expert review and internal discussion. For several genes that have been shown to contribute to the disorder in a digenic/polygenic manner, the decision was made to only include genes as green if biallelic variants had been reported independently from other genes. Genes with a monoallelic mechanism, that have been shown in some studies in conjunction with variants in other genes, were made red as monoallelic variants in these genes may not provide a complete diagnosis.
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 gene CHD7 were set to Hypogonadotropic hypogonadism 5 with or without anosmia,612370;CHARGE syndrome, 214800; Scoliosis, idiopathic 3, 608765
Set Mode of Inheritance, Added New Source
Sarah Leigh (Genomics England Curator)CHD7 was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance, Added New Source
Sarah Leigh (Genomics England Curator)CHD7 was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: Radboud University Medical Center, Nijmegen Model of inheritance for gene CHD7 was set to Unknown
Added New Source
Sarah Leigh (Genomics England Curator)CHD7 was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: Emory Genetics Laboratory
Set Mode of Inheritance, Added New Source
Sarah Leigh (Genomics England Curator)CHD7 was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: UKGTN Model of inheritance for gene CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Sarah Leigh (Genomics England Curator)CHD7 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: OMIM
Created
Sarah Leigh (Genomics England Curator)CHD7 was created by sleigh