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| Adult onset hereditary spastic paraplegia v0.148 | AMPD2 | Louise Daugherty commented on gene: AMPD2: 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 | AMPD2 |
Louise Daugherty Source Expert Review Amber was added to AMPD2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Adult onset hereditary spastic paraplegia v0.146 | AMPD2 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.146 | AMPD2 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.61 | AMPD2 | Louise Daugherty Publications for gene: AMPD2 were set to Novarino et al. (2014) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.54 | AMPD2 | Louise Daugherty Source Yorkshire and North East GLH was added to AMPD2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.53 | AMPD2 | Louise Daugherty commented on gene: AMPD2: 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 | AMPD2 | Nick Beauchamp reviewed gene: AMPD2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24482476, 27159321; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.42 | AMPD2 | Louise Daugherty commented on gene: AMPD2: 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 | AMPD2 |
Louise Daugherty Added phenotypes Hereditary Spastic Paraplegia?; Pontocerebellar hypolplasia (biallelic) for gene: AMPD2 Publications for gene AMPD2 were changed from to Novarino et al. (2014) |
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| Adult onset hereditary spastic paraplegia v0.29 | AMPD2 | Chris Buxton reviewed gene: AMPD2: Rating: RED; Mode of pathogenicity: ; Publications: Novarino et al. (2014); Phenotypes: Pontocerebellar hypolplasia (biallelic), Hereditary Spastic Paraplegia?; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.28 | AMPD2 | Louise Daugherty Source South West GLH was added to AMPD2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.6 | AMPD2 | Louise Daugherty reviewed gene: AMPD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.5 | AMPD2 | James Polke reviewed gene: AMPD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 63, 615686, AR, Pontocerebellar hypoplasia, type 9, 615809, AR ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.4 | AMPD2 |
Louise Daugherty Source Expert Review Green was added to AMPD2. Mode of inheritance for gene AMPD2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes ?Spastic paraplegia 63, 615686, AR; Pontocerebellar hypoplasia, type 9, 615809, AR for gene: AMPD2 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Adult onset hereditary spastic paraplegia v0.3 | AMPD2 | Louise Daugherty Source NHS GMS was added to AMPD2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.2 | AMPD2 |
Louise Daugherty gene: AMPD2 was added gene: AMPD2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: AMPD2 was set to |
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