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Adult onset hereditary spastic paraplegia v1.95 SPART Ivone Leong Tag Q3_21_phenotype was removed from gene: SPART.
Adult onset hereditary spastic paraplegia v1.95 SPART Sarah Leigh commented on gene: SPART
Adult onset hereditary spastic paraplegia v1.94 SPART Ivone Leong Source Expert Review Amber was added to SPART.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset hereditary spastic paraplegia v1.49 SPART Arina Puzriakova Publications for gene: SPART were set to 12134148; 18413476; 26003402; 20301556
Adult onset hereditary spastic paraplegia v1.48 SPART Arina Puzriakova Tag Q3_21_phenotype tag was added to gene: SPART.
Adult onset hereditary spastic paraplegia v1.48 SPART Arina Puzriakova reviewed gene: SPART: Rating: ; Mode of pathogenicity: None; Publications: 12134148, 18413476, 20301556, 20437587, 27112432, 28679690; Phenotypes: Troyer syndrome, OMIM:275900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v1.48 SPART Arina Puzriakova Phenotypes for gene: SPART were changed from Troyer syndrome; Spastic paraplegia 20, autosomal recessive to Troyer syndrome, OMIM:275900; Spastic paraplegia 20
Adult onset hereditary spastic paraplegia v1.7 SPART Zornitza Stark reviewed gene: SPART: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset hereditary spastic paraplegia v0.148 SPART Louise Daugherty commented on gene: SPART: 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 SPART Louise Daugherty Deleted their comment
Adult onset hereditary spastic paraplegia v0.129 SPART Louise Daugherty Publications for gene: SPART were set to
Adult onset hereditary spastic paraplegia v0.54 SPART Louise Daugherty Source Yorkshire and North East GLH was added to SPART.
Adult onset hereditary spastic paraplegia v0.53 SPART Nick Beauchamp reviewed gene: SPART: Rating: AMBER; Mode of pathogenicity: None; Publications: 12134148, 18413476, 26003402, 20301556; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.53 SPART Louise Daugherty commented on gene: SPART: 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 SPART Louise Daugherty reviewed gene: SPART: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.5 SPART James Polke reviewed gene: SPART: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 20, autosomal recessive, Troyer syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.4 SPART Louise Daugherty Source Expert Review Green was added to SPART.
Mode of inheritance for gene SPART was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Troyer syndrome; Spastic paraplegia 20, autosomal recessive for gene: SPART
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.3 SPART Louise Daugherty Source NHS GMS was added to SPART.
Adult onset hereditary spastic paraplegia v0.2 SPART Louise Daugherty gene: SPART was added
gene: SPART was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: SPART was set to