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Childhood onset hereditary spastic paraplegia v2.71 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.; 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
Childhood onset hereditary spastic paraplegia v1.164 WDR45B Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.75 WDR45B Louise Daugherty Source Yorkshire and North East GLH was added to WDR45B.
Childhood onset hereditary spastic paraplegia v1.74 WDR45B Nick Beauchamp reviewed gene: WDR45B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.74 WDR45B Louise Daugherty commented on gene: WDR45B: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.48 WDR45B Louise Daugherty reviewed gene: WDR45B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.6 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
Childhood onset hereditary spastic paraplegia v1.5 WDR45B Louise Daugherty Source NHS GMS was added to WDR45B.
Childhood onset hereditary spastic paraplegia v1.4 WDR45B Louise Daugherty Source London North GLH was added to WDR45B.
Childhood onset hereditary spastic paraplegia v1.3 WDR45B Louise Daugherty Added phenotypes profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations.; Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 for gene: WDR45B
Childhood onset hereditary spastic paraplegia v1.0 WDR45B Arianna Tucci commented on gene: WDR45B
Childhood onset hereditary spastic paraplegia v0.140 WDR45B Louise Daugherty Phenotypes for gene: WDR45B were changed from profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations. to Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977; profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations.
Childhood onset hereditary spastic paraplegia v0.6 WDR45B Sarah Leigh gene: WDR45B was added
gene: WDR45B was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Green,Literature
Mode of inheritance for gene: WDR45B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR45B were set to 21937992; 28503735
Phenotypes for gene: WDR45B were set to profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations.