Hypogonadotropic hypogonadism
Gene: WDR11

WDR11 (WD repeat domain 11)
EnsemblGeneIds (GRCh38): ENSG00000120008
EnsemblGeneIds (GRCh37): ENSG00000120008
OMIM: 606417, Gene2Phenotype
WDR11 is in 7 panels

4 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Found in 1/4 sources. Three reviewers recommend Green. Literature report 5 variants, including three alterations (A435T, R448Q, and H690Q) in WD domains important for β propeller formation and protein-protein interaction
Created: 26 May 2016, 2:31 p.m.

Created: 26 May 2016, 2:31 p.m.

Panel version: 0.50

Richard Quinton (Newcastle University)

Green List (high evidence)

Created: 24 May 2016, 1:01 p.m.

Panel version: 0.2

Mehul Dattani (UCL Institute of Child Health)

Green List (high evidence)

Created: 24 May 2016, 12:18 p.m.

Panel version: 0.2

Louise IZATT (GSTT Clinical Genetics Service)

Green List (high evidence)

Created: 21 May 2016, 1:17 p.m.

Panel version: 0.2

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
Literature
Radboud University Medical Center, Nijmegen
OMIM

Phenotypes

Hypogonadotropic hypogonadism 14 with or without anosmia, 614858

OMIM

606417

Clinvar variants

Variants in WDR11

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.

2 Jun 2016, Gel status: 4