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Adult onset hereditary spastic paraplegia v0.146 SPG21 Louise Daugherty Deleted their comment
Adult onset hereditary spastic paraplegia v0.132 SPG21 Louise Daugherty Publications for gene: SPG21 were set to
Adult onset hereditary spastic paraplegia v0.54 SPG21 Louise Daugherty Source Yorkshire and North East GLH was added to SPG21.
Adult onset hereditary spastic paraplegia v0.53 SPG21 Nick Beauchamp commented on gene: SPG21: Adult onset, three families reported. No additional patients identified using Sheffield panel.
Adult onset hereditary spastic paraplegia v0.53 SPG21 Nick Beauchamp reviewed gene: SPG21: Rating: GREEN; Mode of pathogenicity: None; Publications: 14564668, 28752238, 24451228; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.53 SPG21 Louise Daugherty commented on gene: SPG21: 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 SPG21 Louise Daugherty reviewed gene: SPG21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.5 SPG21 James Polke reviewed gene: SPG21: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic Paraplegia, autosomal recessive, Mast syndrome, 248900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.4 SPG21 Louise Daugherty Source Expert Review Green was added to SPG21.
Mode of inheritance for gene SPG21 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mast syndrome, 248900; Spastic Paraplegia, autosomal recessive for gene: SPG21
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.3 SPG21 Louise Daugherty Source NHS GMS was added to SPG21.
Adult onset hereditary spastic paraplegia v0.2 SPG21 Louise Daugherty gene: SPG21 was added
gene: SPG21 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: SPG21 was set to