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Adult onset hereditary spastic paraplegia v6.5 GJC2 Ida Ertmanska commented on gene: GJC2: Comment on list classification: There are at least 3 families reported in literature with individuals affected by late-onset spastic paraplegia harbouring biallelic missense variants in GJC2. In one family, 3 siblings with the same homozygous GJC2 variant presented with a variable phenotype (1 sibling diagnosed with spastic paraplegia, and 2 sibs with hypomyelinating leukodystrophy), which may indicate the two disease entities are part of a spectrum. All individuals presented with lower limb spasticity and pyramidal disturbances. Based on available evidence, this gene should be promoted to Green for Adult onset hereditary spastic paraplegia.
Adult onset hereditary spastic paraplegia v6.5 GJC2 Ida Ertmanska Phenotypes for gene: GJC2 were changed from Spastic paraplegia 44, autosomal recessive; Spastic paraplegia 44, autosomal recessive 613206, AR; Leukodystrophy, hypomyelinating, 2, 608804, AR to ?Spastic paraplegia 44, autosomal recessive , OMIM:613206; Leukodystrophy, hypomyelinating, 2, OMIM:608804
Adult onset hereditary spastic paraplegia v6.4 GJC2 Ida Ertmanska Publications for gene: GJC2 were set to Orthmann-Murphy et al. (2009); 19056803
Adult onset hereditary spastic paraplegia v6.3 GJC2 Ida Ertmanska Tag Q1_26_promote_green tag was added to gene: GJC2.
Adult onset hereditary spastic paraplegia v6.3 GJC2 Ida Ertmanska reviewed gene: GJC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19056803, 22833003, 31431325, 37915394; Phenotypes: ?Spastic paraplegia 44, autosomal recessive , OMIM:613206; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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)
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)
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)
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