Hypogonadotropic hypogonadismGene: CUL4B
Comment when marking as ready: Associated with phenotype in OMIM and G2P, at least 6 variants identified. Found in ¾ sources. One reviewer recommends Green
Created: 12 Oct 2016, 8:29 a.m.
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 CUL4B were set to Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354;XLMR with Short Stature, Small Testes, Muscle Wasting, and Tremor panel
CUL4B was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: Radboud University Medical Center, Nijmegen
CUL4B was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: Emory Genetics Laboratory
CUL4B was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: UKGTN
CUL4B was created by sleigh