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Adult onset hereditary spastic paraplegia v1.42 | KIF1C | Arina Puzriakova Publications for gene: KIF1C were set to 24482476; 24319291; 17273843; 24808017 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v1.41 | KIF1C | Arina Puzriakova reviewed gene: KIF1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 24319291, 24482476, 24808017, 29544888, 31413903; Phenotypes: Spastic ataxia 2, autosomal recessive, OMIM:611302; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v1.7 | KIF1C | Zornitza Stark reviewed gene: KIF1C: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.148 | KIF1C | Louise Daugherty commented on gene: KIF1C: 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 | KIF1C | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.103 | KIF1C | Louise Daugherty Publications for gene: KIF1C were set to 24482476; 24319291; 17273843 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.54 | KIF1C | Louise Daugherty Source Yorkshire and North East GLH was added to KIF1C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.53 | KIF1C | Nick Beauchamp reviewed gene: KIF1C: Rating: AMBER; Mode of pathogenicity: None; Publications: 24482476, 24319291, 24808017; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.53 | KIF1C | Louise Daugherty commented on gene: KIF1C: 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 | KIF1C | Louise Daugherty commented on gene: KIF1C: 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 v0.32 | KIF1C | Louise Daugherty Mode of inheritance for gene: KIF1C was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.30 | KIF1C |
Louise Daugherty Added phenotypes Spastic ataxia 2, autosomal recessive for gene: KIF1C Publications for gene KIF1C were changed from to 24482476; 24319291; 17273843 |
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Adult onset hereditary spastic paraplegia v0.29 | KIF1C | Chris Buxton reviewed gene: KIF1C: Rating: GREEN; Mode of pathogenicity: ; Publications: 24482476, 24319291, 24482476, 17273843; Phenotypes: Spastic ataxia 2, autosomal recessive ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.28 | KIF1C | Louise Daugherty Source South West GLH was added to KIF1C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.6 | KIF1C | Louise Daugherty reviewed gene: KIF1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.5 | KIF1C | James Polke reviewed gene: KIF1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 2, autosomal recessive, 611302; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.4 | KIF1C |
Louise Daugherty Source Expert Review Green was added to KIF1C. Added phenotypes Spastic ataxia 2, autosomal recessive, 611302 for gene: KIF1C Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Adult onset hereditary spastic paraplegia v0.3 | KIF1C | Louise Daugherty Source NHS GMS was added to KIF1C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.2 | KIF1C |
Louise Daugherty gene: KIF1C was added gene: KIF1C was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: KIF1C was set to |