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| Adult onset hereditary spastic paraplegia v1.87 | IBA57 | Arina Puzriakova Phenotypes for gene: IBA57 were changed from ?Spastic paraplegia 74, autosomal recessive, 616451 to ?Spastic paraplegia 74, autosomal recessive, OMIM:616451 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.148 | IBA57 | Louise Daugherty commented on gene: IBA57: 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 | IBA57 |
Louise Daugherty Source Expert Review Amber was added to IBA57. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Adult onset hereditary spastic paraplegia v0.146 | IBA57 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.54 | IBA57 | Louise Daugherty Source Yorkshire and North East GLH was added to IBA57. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.53 | IBA57 | Nick Beauchamp reviewed gene: IBA57: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.53 | IBA57 | Louise Daugherty commented on gene: IBA57: 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 | IBA57 | Louise Daugherty commented on gene: IBA57: 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 | IBA57 |
Louise Daugherty Added phenotypes ?Spastic paraplegia 74, autosomal recessive, 616451 for gene: IBA57 Publications for gene IBA57 were changed from to 30258207; 25609768 |
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| Adult onset hereditary spastic paraplegia v0.29 | IBA57 | Chris Buxton reviewed gene: IBA57: Rating: RED; Mode of pathogenicity: ; Publications: 25609768, 30258207; Phenotypes: ?Spastic paraplegia 74, autosomal recessive, 616451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.28 | IBA57 | Louise Daugherty Source South West GLH was added to IBA57. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.6 | IBA57 | Louise Daugherty reviewed gene: IBA57: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.5 | IBA57 | James Polke reviewed gene: IBA57: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 74, autosomal recessive, 616451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.4 | IBA57 |
Louise Daugherty Source Expert Review Green was added to IBA57. Mode of inheritance for gene IBA57 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes ?Spastic paraplegia 74, autosomal recessive, 616451 for gene: IBA57 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Adult onset hereditary spastic paraplegia v0.3 | IBA57 | Louise Daugherty Source NHS GMS was added to IBA57. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.2 | IBA57 |
Louise Daugherty gene: IBA57 was added gene: IBA57 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: IBA57 was set to |
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