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Adult onset hereditary spastic paraplegia v0.148 | VAMP1 | Louise Daugherty commented on gene: VAMP1: Green gene with Red and Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.147 | VAMP1 |
Louise Daugherty Source Expert Review Amber was added to VAMP1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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Adult onset hereditary spastic paraplegia v0.146 | VAMP1 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.137 | VAMP1 | Louise Daugherty Publications for gene: VAMP1 were set to 22958904 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.54 | VAMP1 | Louise Daugherty Source Yorkshire and North East GLH was added to VAMP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.53 | VAMP1 | Nick Beauchamp reviewed gene: VAMP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 22958904, 27957547; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.53 | VAMP1 | Louise Daugherty commented on gene: VAMP1: 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 v0.42 | VAMP1 | Louise Daugherty commented on gene: VAMP1: 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 v0.35 | VAMP1 | Louise Daugherty Mode of inheritance for gene: VAMP1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.30 | VAMP1 |
Louise Daugherty Added phenotypes Spastic ataxia 1, autosomal dominant, 108600 for gene: VAMP1 Publications for gene VAMP1 were changed from to 22958904 |
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Adult onset hereditary spastic paraplegia v0.29 | VAMP1 | Chris Buxton reviewed gene: VAMP1: Rating: RED; Mode of pathogenicity: ; Publications: 22958904; Phenotypes: Spastic ataxia 1, autosomal dominant, 108600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.28 | VAMP1 | Louise Daugherty Source South West GLH was added to VAMP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.6 | VAMP1 | Louise Daugherty reviewed gene: VAMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.5 | VAMP1 | James Polke reviewed gene: VAMP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 1, autosomal dominant, 108600 ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.4 | VAMP1 |
Louise Daugherty Source Expert Review Green was added to VAMP1. Added phenotypes Spastic ataxia 1, autosomal dominant, 108600 for gene: VAMP1 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Adult onset hereditary spastic paraplegia v0.3 | VAMP1 | Louise Daugherty Source NHS GMS was added to VAMP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.2 | VAMP1 |
Louise Daugherty gene: VAMP1 was added gene: VAMP1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: VAMP1 was set to |