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Adult onset hereditary spastic paraplegia v0.148 | GJC2 | Louise Daugherty commented on gene: GJC2: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.147 | GJC2 |
Louise Daugherty Source Expert Review Amber was added to GJC2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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Adult onset hereditary spastic paraplegia v0.146 | GJC2 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.94 | GJC2 | Louise Daugherty Phenotypes for gene: GJC2 were changed from Spastic paraplegia 44, autosomal recessive; Spastic paraplegia 44, autosomal recessive 613206, AR; Lymphatic malformation 3, 613480, AD; Leukodystrophy, hypomyelinating, 2, 608804, AR to Spastic paraplegia 44, autosomal recessive; Spastic paraplegia 44, autosomal recessive 613206, AR; Leukodystrophy, hypomyelinating, 2, 608804, AR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.93 | GJC2 | Louise Daugherty Publications for gene: GJC2 were set to Orthmann-Murphy et al. (2009) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.54 | GJC2 | Louise Daugherty Source Yorkshire and North East GLH was added to GJC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.53 | GJC2 | Nick Beauchamp reviewed gene: GJC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19056803; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.53 | GJC2 | Louise Daugherty commented on gene: GJC2: 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 | GJC2 | Louise Daugherty commented on gene: GJC2: 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 v0.31 | GJC2 | Louise Daugherty Mode of inheritance for gene: GJC2 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.30 | GJC2 |
Louise Daugherty Added phenotypes Spastic paraplegia 44, autosomal recessive for gene: GJC2 Publications for gene GJC2 were changed from to Orthmann-Murphy et al. (2009) |
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Adult onset hereditary spastic paraplegia v0.29 | GJC2 | Chris Buxton reviewed gene: GJC2: Rating: AMBER; Mode of pathogenicity: ; Publications: Orthmann-Murphy et al. (2009); Phenotypes: Spastic paraplegia 44, autosomal recessive ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.28 | GJC2 | Louise Daugherty Source South West GLH was added to GJC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.6 | GJC2 | Louise Daugherty reviewed gene: GJC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.5 | GJC2 | James Polke reviewed gene: GJC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 2, 608804, AR, Spastic paraplegia 44, autosomal recessive 613206, AR, Lymphatic malformation 3, 613480, AD; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.4 | GJC2 |
Louise Daugherty Source Expert Review Green was added to GJC2. Added phenotypes Spastic paraplegia 44, autosomal recessive 613206, AR; Lymphatic malformation 3, 613480, AD; Leukodystrophy, hypomyelinating, 2, 608804, AR for gene: GJC2 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Adult onset hereditary spastic paraplegia v0.3 | GJC2 | Louise Daugherty Source NHS GMS was added to GJC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.2 | GJC2 |
Louise Daugherty gene: GJC2 was added gene: GJC2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: GJC2 was set to |