Hereditary spastic paraplegia - adult onset

Gene: WDR48

Amber List (moderate evidence)

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

3 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

I don't know

Two/three families (two with same founder mutation), childhood onset. No additional patients identified using Sheffield panel.
Created: 10 May 2019, 12:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

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

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 27 Apr 2019, 4:30 p.m.

Chris Buxton (North Bristol NHS Trust)

I don't know

2 families, same homozygous variantsegregating with complex hereditary spastic paraparesis. Zivony-Elboum (2012, 22717650). Zebrafish model supported pathogenicity.
Created: 27 Apr 2019, 4:17 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

  • Novarino et al. (2014)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review Amber
  • South West GLH
Phenotypes
  • Spastic paraplegia
OMIM
612167
Clinvar variants
Variants in WDR48
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 May 2019, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: WDR48 were changed from to Spastic paraplegia

13 May 2019, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: WDR48 were set to Novarino et al. (2014)

13 May 2019, Gel status: 2

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: WDR48 was changed from to BIALLELIC, autosomal or pseudoautosomal

13 May 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to WDR48.

13 May 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to WDR48.

2 May 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: wdr48 has been classified as Amber List (Moderate Evidence).

27 Apr 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene WDR48 were changed from to Novarino et al. (2014)

27 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: WDR48 was added gene: WDR48 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH Mode of inheritance for gene: WDR48 was set to