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Intellectual disability

Gene: WDR81

Green List (high evidence)

WDR81 (WD repeat domain 81)
EnsemblGeneIds (GRCh38): ENSG00000167716
EnsemblGeneIds (GRCh37): ENSG00000167716
OMIM: 614218, Gene2Phenotype
WDR81 is in 9 panels

7 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Created: 29 Sep 2018, 9:17 p.m.

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Sufficient cases, different populations with >3 variants reported. Phenotype appears to be of ID / developmental delay with ataxia causing inability to walk, except in a quadrupedal manner.
Created: 14 Nov 2017, 11:30 a.m.

Caroline Wright (Sanger)

Red List (low evidence)

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Possible DD-G2P gene for 'Cerebella ataxia, mental retardation and dysequilibrium syndrome 2' but 3 unrelated cases from literature to support causation including a 2017 paper (PMID:26437881, 21885617, 28972664).
Created: 29 Nov 2017, 11:19 a.m.
PMID:28972664 (2017) report a 17 year old Caucausian female with a severe phenotype born with microcephaly, respiratory distress and neonatal seizures. She did not acquire any developmental milestones. She was compound heterozygous for 2 nonsense WDR81 variants (p.Trp28 and p.Arg619).
Created: 12 Oct 2017, 12:39 p.m.
PMID:26437881 (Komara et al, 2016) report 2 Yemeni sisters with CAMRQ2 (MIM:610185) and a homozygous R1333X substitution in WDR81. Phenotypes of the affected siblings include global developmental delay.
Created: 12 Oct 2017, 12:38 p.m.
PMID:21885617 (2011) report a consanguineous Turkish family exhibiting a phenotype incuding quadrupedal locomotion, mental retardation and cerebro-cerebellar hypoplasia. The variant p.P856L in WDR81 segregated with the condition.
Created: 12 Oct 2017, 12:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
cerebellar ataxia, intellectual disability and quadrupedal locomotion

Publications

Alice Gardham (Genomics England)

Comment when marking as ready: Unlikely to present with coarse facial features
Created: 24 Nov 2016, 10:01 a.m.

alisdair mcneill (Sheffield childrens hospital)

Red List (low evidence)

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • cerebellar ataxia, intellectual disability and quadrupedal locomotion
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185
OMIM
614218
Clinvar variants
Variants in WDR81
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: wdr81 has been classified as Green List (High Evidence).

29 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to WDR81.

12 Mar 2018, Gel status: 4

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.

19 Dec 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for WDR81 were set to cerebellar ataxia, intellectual disability and quadrupedal locomotion; Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185

29 Nov 2017, Gel status: 4

Added New Source, Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to WDR81. Panel: Intellectual disability Model of inheritance for gene WDR81 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene WDR81 was set to ['28972664', ' 21885617', ' 26437881', ' 28961333']

13 Nov 2015, Gel status: 1

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: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

WDR81 was added to Intellectual disabilitypanel. Source: Expert Review Red

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

WDR81 was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen