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Childhood onset hereditary spastic paraplegia v1.148 | ATP13A2 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.148 | ATP13A2 | Louise Daugherty Publications for gene: ATP13A2 were set to 28137957; 27217339 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.75 | ATP13A2 | Louise Daugherty Source Yorkshire and North East GLH was added to ATP13A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.74 | ATP13A2 | Louise Daugherty commented on gene: ATP13A2: 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 v1.73 | ATP13A2 | Nick Beauchamp reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28137957, 27217339, 27165006; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.48 | ATP13A2 | Louise Daugherty reviewed gene: ATP13A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | ATP13A2 | James Polke reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Adult-onset lower-limb predominant spastic paraparesis, Spastic paraplegia 78, autosomal recessive, 617225, complicated hereditary spastic paraplegia, Kufor-Rakeb syndrome, 606693 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.5 | ATP13A2 | Louise Daugherty Source NHS GMS was added to ATP13A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.4 | ATP13A2 | Louise Daugherty Source London North GLH was added to ATP13A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | ATP13A2 |
Louise Daugherty Added phenotypes Adult-onset lower-limb predominant spastic paraparesis; Spastic paraplegia 78, autosomal recessive, 617225; complicated hereditary spastic paraplegia for gene: ATP13A2 Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood onset hereditary spastic paraplegia v1.0 | ATP13A2 | Arianna Tucci commented on gene: ATP13A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.38 | ATP13A2 | Rebecca Foulger Classified gene: ATP13A2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.38 | ATP13A2 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green following review on the Hereditary spastic paraplegia panel. Note that this gene may not be appropriate for a childhood onset panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.38 | ATP13A2 | Rebecca Foulger Gene: atp13a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.37 | ATP13A2 | Rebecca Foulger Publications for gene: ATP13A2 were set to 28137957 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.36 | ATP13A2 | Rebecca Foulger Phenotypes for gene: ATP13A2 were changed from Adult-onset lower-limb predominant spastic paraparesis to Adult-onset lower-limb predominant spastic paraparesis; Spastic paraplegia 78, autosomal recessive, 617225; complicated hereditary spastic paraplegia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.6 | ATP13A2 |
Sarah Leigh gene: ATP13A2 was added gene: ATP13A2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP13A2 were set to 28137957 Phenotypes for gene: ATP13A2 were set to Adult-onset lower-limb predominant spastic paraparesis |