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Adult onset hereditary spastic paraplegia v1.95 WDR45B Ivone Leong Tag Q3_21_phenotype was removed from gene: WDR45B.
Adult onset hereditary spastic paraplegia v1.95 WDR45B Sarah Leigh commented on gene: WDR45B
Adult onset hereditary spastic paraplegia v1.94 WDR45B Ivone Leong Source Expert Review Amber was added to WDR45B.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset hereditary spastic paraplegia v1.52 WDR45B Arina Puzriakova Tag Q3_21_phenotype tag was added to gene: WDR45B.
Adult onset hereditary spastic paraplegia v1.52 WDR45B Arina Puzriakova reviewed gene: WDR45B: Rating: ; Mode of pathogenicity: None; Publications: 28503735; Phenotypes: Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, OMIM:617977; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v1.52 WDR45B Arina Puzriakova Phenotypes for gene: WDR45B were changed from Profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations. Omim-Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 to Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, OMIM:617977
Adult onset hereditary spastic paraplegia v1.7 WDR45B Zornitza Stark reviewed gene: WDR45B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset hereditary spastic paraplegia v0.148 WDR45B Louise Daugherty commented on gene: WDR45B: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Adult onset hereditary spastic paraplegia v0.146 WDR45B Louise Daugherty Deleted their comment
Adult onset hereditary spastic paraplegia v0.140 WDR45B Louise Daugherty Publications for gene: WDR45B were set to
Adult onset hereditary spastic paraplegia v0.54 WDR45B Louise Daugherty Source Yorkshire and North East GLH was added to WDR45B.
Adult onset hereditary spastic paraplegia v0.53 WDR45B Nick Beauchamp reviewed gene: WDR45B: Rating: AMBER; Mode of pathogenicity: None; Publications: 21937992, 28503735; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.53 WDR45B Louise Daugherty commented on gene: WDR45B: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.6 WDR45B Louise Daugherty reviewed gene: WDR45B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.5 WDR45B James Polke reviewed gene: WDR45B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations. Omim-Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.4 WDR45B Louise Daugherty Source Expert Review Green was added to WDR45B.
Mode of inheritance for gene WDR45B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations. Omim-Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 for gene: WDR45B
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.3 WDR45B Louise Daugherty Source NHS GMS was added to WDR45B.
Adult onset hereditary spastic paraplegia v0.2 WDR45B Louise Daugherty gene: WDR45B was added
gene: WDR45B was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: WDR45B was set to