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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)
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