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  3. WDR81
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Cerebellar hypoplasia

Gene: WDR81

Green List (high evidence)
WDR81 (WD repeat domain 81)
EnsemblGeneIds (GRCh38): ENSG00000167716
EnsemblGeneIds (GRCh37): ENSG00000167716
OMIM: 614218, Gene2Phenotype
WDR81 is in 10 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Associated with cerebellar hypoplasia and atrophy
Created: 16 Nov 2016, 10:21 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185

Publications

Created: 16 Nov 2016, 10:21 a.m.

Panel version: 0.93

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • 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

22 Feb 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

22/02/2017: Panel revised after internal clinical review and further curation.

16 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

16 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

16 Nov 2016, Gel status: 2

Added New Source

Alice Gardham (Genomics England)

WDR81 was added to Cerebellar hypoplasiapanel. Sources: Radboud University Medical Center, Nijmegen,Literature,UKGTN

16 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

WDR81 was created by agardham