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  2. Hereditary spastic paraplegia
  3. WDR48
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Hereditary spastic paraplegia

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

2 reviews

Chris Buxton (North Bristol NHS Trust)

Red List (low evidence)

2 families, same homozygous variantsegregating with complex hereditary spastic paraparesis
Zivony-Elboum (2012, 22717650). Zebrafish model supported pathogenicity
Provided on Sheffield's HSP panel
Created: 27 Nov 2018, 12:28 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Early onset spastic paraparesis; mild intellectual disability; kyphosis; pectus carinatum; hypertrichosis

Publications

Created: 27 Nov 2018, 12:28 p.m.

Panel version: 1.71

emma baple (Genomics England Curator)

Comment when marking as ready: very limited evidence
Created: 10 May 2016, 2:18 p.m.
Created: 10 May 2016, 2:18 p.m.

Panel version: 0.36

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
OMIM
612167
Clinvar variants
Variants in WDR48
Penetrance
Complete
Publications
  • Novarino et al. (2014)
Panels with this gene

History Filter Activity

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

20 Jul 2015, Gel status: 0

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene WDR48 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 0

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene WDR48 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

WDR48 was added to Hereditary spastic paraplegiapanel. Sources: Expert list