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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
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)
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