Hereditary spastic paraplegia - childhood 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

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Red gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Created: 21 May 2019, 4:50 p.m.

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

Details

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

History Filter Activity

21 May 2019, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to WDR48. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

13 May 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: WDR48 were changed from to spastic paraplegia

13 May 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

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

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to WDR48.

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to WDR48.

28 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Comment on list classification

19 Dec 2018, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: WDR48 was added gene: WDR48 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,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)