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Prepair 1000+

Gene: WDR81

Green List (high evidence)

WDR81 (WD repeat domain 81)
EnsemblGeneIds (GRCh38): ENSG00000167716
EnsemblGeneIds (GRCh37): ENSG00000167716
OMIM: 614218, Gene2Phenotype
WDR81 is in 12 panels

1 review

Marta Cifuentes Ochoa (Victorian Clinical Genetics Services)

Green List (high evidence)

HGNC approved symbol/name: WDR81
Is the phenotype(s) severe and onset <18yo? Y
Known technical challenges? N
Gene reported in >3 independent families
Created: 7 Feb 2025, 5:38 a.m. | Last Modified: 7 Feb 2025, 5:38 a.m.
Panel Version: 1.1476

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 MIM#610185, MONDO:0012430; Hydrocephalus, congenital, 3, with brain anomalies MIM#617967, MONDO:0054794

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3)
OMIM
614218
Clinvar variants
Variants in WDR81
Penetrance
None
Panels with this gene

History Filter Activity

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3) for gene: WDR81

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: WDR81 was added gene: WDR81 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR81 were set to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3)