Hypogonadotropic hypogonadism

Gene: WDR11

Green List (high evidence)

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.

Richard Quinton (Newcastle University)

Green List (high evidence)

Mehul Dattani (UCL Institute of Child Health)

Green List (high evidence)

Louise IZATT (GSTT Clinical Genetics Service)

Green List (high evidence)

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

Set publications

Sarah Leigh (Genomics England Curator)

Publications for WDR11 were set to 21856375; 20887964; 25064402

2 Jun 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene WDR11 were set to Hypogonadotropic hypogonadism 14 with or without anosmia, 614858

2 Jun 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for WDR11 were set to 21856375; 20887964; 25064402

26 May 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

26 May 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

WDR11 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: Literature

26 May 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

26 May 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for WDR11 were set to 21856375; 20887964

26 May 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for WDR11 were set to 21856375;

17 May 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

WDR11 was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: Radboud University Medical Center, Nijmegen

17 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

WDR11 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: OMIM

17 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

WDR11 was created by sleigh