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Intellectual disability

Gene: WDR11

Red List (low evidence)

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

4 reviews

Caroline Wright (Sanger)

I don't know

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
KALLMANN SYNDROME

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

Confirmed DD-G2P gene for 'Kallmann syndrome' (Orphanet:478) which is hypogonadotropic hypogonadism (MIM:614858) accompanied by anosmia, and is characterised by delayed or absent puberty. Although catergorised as a 'known ID gene' in PMID:24896178 (Gilissen et al., 2014), WDR11 variants are not recorded in De Ligt et al., 2012 (PMID:23033978) on which part of the Gilissen list is based, and no further literature evidence for involvement of WDR11 in ID.
Created: 31 Oct 2017, 9:24 a.m.

Publications

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf;in_gilissen_2014_known . Main mutation mechanism : All missense/in frame
Created: 27 Jul 2017, 8:54 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

Mode of pathogenicity
Other

Lu Raymond (university of cambridge )

I don't know

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • KALLMANN SYNDROME
OMIM
606417
Clinvar variants
Variants in WDR11
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Nov 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene WDR11 was set to ['26350204']

8 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

8 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

WDR11 was added to Intellectual disabilitypanel. Sources: Expert Review Amber

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

WDR11 was created by ellenmcdonagh