Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 |