Hypogonadotropic hypogonadism
Gene: CHD7Comment 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.
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
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.
This gene has been classified as Green List (High Evidence).
Phenotypes for gene CHD7 were set to Hypogonadotropic hypogonadism 5 with or without anosmia,612370;CHARGE syndrome, 214800; Scoliosis, idiopathic 3, 608765
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
CHD7 was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: Radboud University Medical Center, Nijmegen Model of inheritance for gene CHD7 was set to Unknown
CHD7 was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: Emory Genetics Laboratory
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
CHD7 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: OMIM
CHD7 was created by sleigh