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| Adult onset hereditary spastic paraplegia v0.148 | ATP13A2 | Louise Daugherty commented on gene: ATP13A2: 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 | ATP13A2 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.72 | ATP13A2 | Louise Daugherty Publications for gene: ATP13A2 were set to 28137957; 27217339 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.54 | ATP13A2 | Louise Daugherty Source Yorkshire and North East GLH was added to ATP13A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.53 | ATP13A2 | Louise Daugherty commented on gene: ATP13A2: 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 v0.52 | ATP13A2 | Nick Beauchamp reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28137957, 27217339, 27165006; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.42 | ATP13A2 | Louise Daugherty commented on gene: ATP13A2: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.30 | 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 Publications for gene ATP13A2 were changed from to 28137957; 27217339 |
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| Adult onset hereditary spastic paraplegia v0.29 | ATP13A2 | Chris Buxton reviewed gene: ATP13A2: Rating: AMBER; Mode of pathogenicity: ; Publications: 28137957, 27217339; Phenotypes: Adult-onset lower-limb predominant spastic paraparesis, Spastic paraplegia 78, autosomal recessive, 617225, complicated hereditary spastic paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.28 | ATP13A2 | Louise Daugherty Source South West GLH was added to ATP13A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.6 | ATP13A2 | Louise Daugherty reviewed gene: ATP13A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.5 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.4 | ATP13A2 |
Louise Daugherty Source Expert Review Green was added to ATP13A2. Mode of inheritance for gene ATP13A2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Kufor-Rakeb syndrome, 606693 AR; Adult-onset lower-limb predominant spastic paraparesis; Spastic paraplegia 78, autosomal recessive, 617225; complicated hereditary spastic paraplegia for gene: ATP13A2 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Adult onset hereditary spastic paraplegia v0.3 | ATP13A2 | Louise Daugherty Source NHS GMS was added to ATP13A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.2 | ATP13A2 |
Louise Daugherty gene: ATP13A2 was added gene: ATP13A2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: ATP13A2 was set to |
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