Hypogonadotropic hypogonadism
Gene: CUL4B

CUL4B (cullin 4B)
EnsemblGeneIds (GRCh38): ENSG00000158290
EnsemblGeneIds (GRCh37): ENSG00000158290
OMIM: 300304, Gene2Phenotype
CUL4B is in 8 panels

2 reviews

Sarah Leigh (Genomics England Curator)

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.

Created: 26 May 2016, 7:51 a.m.

Panel version: 0.5

Louise IZATT (GSTT Clinical Genetics Service)

Created: 21 May 2016, 1:13 p.m.

Panel version: 0.2

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen
Emory Genetics Laboratory
UKGTN

Phenotypes

Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354
XLMR with Short Stature, Small Testes, Muscle Wasting, and Tremor panel

OMIM

300304

Clinvar variants

Variants in CUL4B

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

28 Oct 2016, Gel status: 4

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.

26 May 2016, Gel status: 4