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Adult onset hereditary spastic paraplegia v1.95 | SLC16A2 | Ivone Leong Tag Q3_21_phenotype was removed from gene: SLC16A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v1.95 | SLC16A2 | Sarah Leigh commented on gene: SLC16A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v1.94 | SLC16A2 |
Ivone Leong Source Expert Review Amber was added to SLC16A2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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Adult onset hereditary spastic paraplegia v1.58 | SLC16A2 | Arina Puzriakova Tag Q3_21_phenotype tag was added to gene: SLC16A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v1.58 | SLC16A2 | Arina Puzriakova Publications for gene: SLC16A2 were set to 14661163; 19194886 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v1.57 | SLC16A2 | Arina Puzriakova reviewed gene: SLC16A2: Rating: ; Mode of pathogenicity: None; Publications: 20713192, 22805248, 23419639, 24170966, 25755011, 25900139, 28742507, 31410843; Phenotypes: Allan-Herndon-Dudley syndrome, OMIM:300523; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v1.57 | SLC16A2 | Arina Puzriakova Phenotypes for gene: SLC16A2 were changed from Allan-Herndon-Dudley syndrome, 300523, XL to Allan-Herndon-Dudley syndrome, OMIM:300523 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v1.7 | SLC16A2 | Zornitza Stark reviewed gene: SLC16A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.148 | SLC16A2 | Louise Daugherty commented on gene: SLC16A2: 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 | SLC16A2 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.125 | SLC16A2 | Louise Daugherty Publications for gene: SLC16A2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.54 | SLC16A2 | Louise Daugherty Source Yorkshire and North East GLH was added to SLC16A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.53 | SLC16A2 | Nick Beauchamp reviewed gene: SLC16A2: Rating: AMBER; Mode of pathogenicity: None; Publications: 14661163, 19194886; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.53 | SLC16A2 | Louise Daugherty commented on gene: SLC16A2: 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 v0.6 | SLC16A2 | Louise Daugherty reviewed gene: SLC16A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.5 | SLC16A2 | James Polke reviewed gene: SLC16A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Allan-Herndon-Dudley syndrome, 300523, XL; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.4 | SLC16A2 |
Louise Daugherty Source Expert Review Green was added to SLC16A2. Mode of inheritance for gene SLC16A2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Allan-Herndon-Dudley syndrome, 300523, XL for gene: SLC16A2 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Adult onset hereditary spastic paraplegia v0.3 | SLC16A2 | Louise Daugherty Source NHS GMS was added to SLC16A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.2 | SLC16A2 |
Louise Daugherty gene: SLC16A2 was added gene: SLC16A2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: SLC16A2 was set to |