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Childhood onset hereditary spastic paraplegia v1.166 | WDR48 | Louise Daugherty reviewed gene: WDR48: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.165 | WDR48 |
Louise Daugherty Source Expert Review Amber was added to WDR48. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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Childhood onset hereditary spastic paraplegia v1.86 | WDR48 | Louise Daugherty Phenotypes for gene: WDR48 were changed from to spastic paraplegia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.85 | WDR48 | Louise Daugherty Publications for gene: WDR48 were set to Novarino et al. (2014) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.76 | WDR48 | Louise Daugherty Source NHS GMS was added to WDR48. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.75 | WDR48 | Louise Daugherty Source Yorkshire and North East GLH was added to WDR48. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.74 | WDR48 | Nick Beauchamp reviewed gene: WDR48: Rating: AMBER; Mode of pathogenicity: None; Publications: 24482476, 24482476; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.6 | WDR48 |
Sarah Leigh 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) |