Hereditary spastic paraplegia - childhood onsetGene: WDR48
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.
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
Variants in this GENE are reported as part of current diagnostic practice
Source Expert Review Amber was added to WDR48. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Phenotypes for gene: WDR48 were changed from to spastic paraplegia
Publications for gene: WDR48 were set to Novarino et al. (2014)
Source NHS GMS was added to WDR48.
Source Yorkshire and North East GLH was added to WDR48.
Rebecca Foulger: Comment on list classification
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)