Genes in panel

Neurodegenerative disorders - adult onset

Gene: WDR48

Red List (low evidence)

WDR48 (WD repeat domain 48)
EnsemblGeneIds (GRCh38): ENSG00000114742
EnsemblGeneIds (GRCh37): ENSG00000114742
OMIM: 612167, Gene2Phenotype
WDR48 is in 4 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
OMIM
612167
Clinvar variants
Variants in WDR48
Penetrance
None
Publications
  • Novarino et al. (2014)
Panels with this gene

History Filter Activity

25 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Gene awaiting curator evaluati

18 Dec 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: WDR48 was added gene: WDR48 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: WDR48 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR48 were set to Novarino et al. (2014)