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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)
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)
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