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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