Adult onset hereditary spastic paraplegia
Gene: WDR48
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
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.
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
Phenotypes for gene: WDR48 were changed from to Spastic paraplegia
Publications for gene: WDR48 were set to Novarino et al. (2014)
Mode of inheritance for gene: WDR48 was changed from to BIALLELIC, autosomal or pseudoautosomal
Source NHS GMS was added to WDR48.
Source Yorkshire and North East GLH was added to WDR48.
Gene: wdr48 has been classified as Amber List (Moderate Evidence).
Publications for gene WDR48 were changed from to Novarino et al. (2014)
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