Hereditary ataxia

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

2 reviews

Damian Smedley (Genomics England Curator)

Comment on list classification: Good evidence from expert and OMIM
Created: 4 Feb 2016, 2:30 p.m.

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

Green List (high evidence)

Evidence in literature. Positive in our cohort
Created: 24 Nov 2015, 4:57 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185
OMIM
614218
Clinvar variants
Variants in WDR81
Penetrance
Complete
Panels with this gene

History Filter Activity

9 Jan 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: WDR81 were changed from Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185

4 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

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

4 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

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

6 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene WDR81 was changed to BIALLELIC, autosomal or pseudoautosomal

6 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

WDR81 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN

6 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

WDR81 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN