Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Adult onset hereditary spastic paraplegia v1.95 | NT5C2 | Ivone Leong Tag Q3_21_phenotype was removed from gene: NT5C2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v1.95 | NT5C2 | Sarah Leigh commented on gene: NT5C2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v1.94 | NT5C2 |
Ivone Leong Source Expert Review Amber was added to NT5C2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v1.45 | NT5C2 | Arina Puzriakova edited their review of gene: NT5C2: Changed publications to: 19415352, 24482476, 28327087, 28884889, 29123918, 32153630 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v1.45 | NT5C2 | Arina Puzriakova Tag Q3_21_phenotype tag was added to gene: NT5C2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v1.45 | NT5C2 | Arina Puzriakova Publications for gene: NT5C2 were set to 19415352; 24482476; 2832708; 28884889; 29123918; 32153630 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v1.44 | NT5C2 | Arina Puzriakova Publications for gene: NT5C2 were set to 28327087; 28884889; 24482476; 29123918 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v1.43 | NT5C2 | Arina Puzriakova reviewed gene: NT5C2: Rating: ; Mode of pathogenicity: None; Publications: 19415352, 24482476, 2832708, 28884889, 29123918, 32153630; Phenotypes: Spastic paraplegia 45, autosomal recessive, OMIM:613162; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v1.43 | NT5C2 | Arina Puzriakova Phenotypes for gene: NT5C2 were changed from Spasticparaplegia45, autosomal recessive, 613162; Spastic paraplegia 45, autosomal recessive, 613162, AR to Spastic paraplegia 45, autosomal recessive, 613162 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v1.7 | NT5C2 | Zornitza Stark reviewed gene: NT5C2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.148 | NT5C2 | Louise Daugherty commented on gene: NT5C2: 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 | NT5C2 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.54 | NT5C2 | Louise Daugherty Source Yorkshire and North East GLH was added to NT5C2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.53 | NT5C2 | Nick Beauchamp reviewed gene: NT5C2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24482476, 28327087, 28884889, 29123918; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.53 | NT5C2 | Louise Daugherty commented on gene: NT5C2: 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 | NT5C2 | Louise Daugherty commented on gene: NT5C2: 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 v0.38 | NT5C2 | Louise Daugherty Mode of inheritance for gene: NT5C2 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.30 | NT5C2 |
Louise Daugherty Added phenotypes Spasticparaplegia45, autosomal recessive, 613162 for gene: NT5C2 Publications for gene NT5C2 were changed from to 28327087; 28884889; 24482476; 29123918 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.29 | NT5C2 | Chris Buxton reviewed gene: NT5C2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24482476, 28884889, 28327087, 29123918; Phenotypes: Spasticparaplegia45, autosomal recessive, 613162; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.28 | NT5C2 | Louise Daugherty Source South West GLH was added to NT5C2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.6 | NT5C2 | Louise Daugherty reviewed gene: NT5C2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.5 | NT5C2 | James Polke reviewed gene: NT5C2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 45, autosomal recessive, 613162, AR ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.4 | NT5C2 |
Louise Daugherty Source Expert Review Green was added to NT5C2. Added phenotypes Spastic paraplegia 45, autosomal recessive, 613162, AR for gene: NT5C2 Rating Changed from Red List (low evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.3 | NT5C2 | Louise Daugherty Source NHS GMS was added to NT5C2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.2 | NT5C2 |
Louise Daugherty gene: NT5C2 was added gene: NT5C2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: NT5C2 was set to |