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Adult onset hereditary spastic paraplegia v1.95 | KIDINS220 | Ivone Leong Tag Q3_21_phenotype was removed from gene: KIDINS220. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v1.95 | KIDINS220 | Sarah Leigh commented on gene: KIDINS220 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v1.94 | KIDINS220 |
Ivone Leong Source Expert Review Amber was added to KIDINS220. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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Adult onset hereditary spastic paraplegia v1.84 | KIDINS220 | Arina Puzriakova Phenotypes for gene: KIDINS220 were changed from Spastic paraplegia, intellectual disability, nystagmus, and obesity, autosomal dominant, 617296 to Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v1.41 | KIDINS220 | Arina Puzriakova Tag Q3_21_phenotype tag was added to gene: KIDINS220. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v1.41 | KIDINS220 | Arina Puzriakova Publications for gene: KIDINS220 were set to 27005418; 29667355 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v1.40 | KIDINS220 | Arina Puzriakova reviewed gene: KIDINS220: Rating: ; Mode of pathogenicity: None; Publications: 27005418, 29667355, 31630374; Phenotypes: Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v1.7 | KIDINS220 | Zornitza Stark reviewed gene: KIDINS220: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.148 | KIDINS220 | Louise Daugherty commented on gene: KIDINS220: 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 | KIDINS220 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.100 | KIDINS220 | Louise Daugherty Publications for gene: KIDINS220 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.54 | KIDINS220 | Louise Daugherty Source Yorkshire and North East GLH was added to KIDINS220. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.53 | KIDINS220 | Nick Beauchamp reviewed gene: KIDINS220: Rating: AMBER; Mode of pathogenicity: None; Publications: 27005418, 29667355; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.53 | KIDINS220 | Louise Daugherty commented on gene: KIDINS220: 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 | KIDINS220 | Louise Daugherty reviewed gene: KIDINS220: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.5 | KIDINS220 | James Polke reviewed gene: KIDINS220: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia, intellectual disability, nystagmus, and obesity, autosomal dominant, 617296; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.4 | KIDINS220 |
Louise Daugherty Source Expert Review Green was added to KIDINS220. Mode of inheritance for gene KIDINS220 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity, autosomal dominant, 617296 for gene: KIDINS220 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Adult onset hereditary spastic paraplegia v0.3 | KIDINS220 | Louise Daugherty Source NHS GMS was added to KIDINS220. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.2 | KIDINS220 |
Louise Daugherty gene: KIDINS220 was added gene: KIDINS220 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: KIDINS220 was set to |