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Adult onset neurodegenerative disorder v2.44 AFG3L2 Ivone Leong Phenotypes for gene: AFG3L2 were changed from Spinocerebellar ataxia 28; Spinocerebellar Ataxia, Dominant; Ataxia, spastic, 5, autosomal recessive; Dystonia; Spastic ataxia 5, autosomal recessive to Spinocerebellar ataxia 28, OMIM:610246; Ataxia, spastic, 5, autosomal recessive, OMIM:614487; Dystonia
Adult onset neurodegenerative disorder v1.101 AFG3L2 Louise Daugherty commented on gene: AFG3L2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.100 AFG3L2 Louise Daugherty Source Wessex and West Midlands GLH was added to AFG3L2.
Adult onset neurodegenerative disorder v1.99 AFG3L2 Tracy Lester reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 28, Spinocerebellar Ataxia, Dominant, Ataxia, spastic, 5, autosomal recessive, Dystonia, Spastic ataxia 5, autosomal recessive; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.74 AFG3L2 Louise Daugherty commented on gene: AFG3L2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.72 AFG3L2 Nick Beauchamp reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 28, Spinocerebellar Ataxia, Dominant, Ataxia, spastic, 5, autosomal recessive, Dystonia, Spastic ataxia 5, autosomal recessive; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.67 AFG3L2 Louise Daugherty Source Yorkshire and North East GLH was added to AFG3L2.
Adult onset neurodegenerative disorder v1.11 AFG3L2 Louise Daugherty reviewed gene: AFG3L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 AFG3L2 James Polke reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.9 AFG3L2 Louise Daugherty Source NHS GMS was added to AFG3L2.
Adult onset neurodegenerative disorder v1.8 AFG3L2 Louise Daugherty Source London North GLH was added to AFG3L2.
Adult onset neurodegenerative disorder v0.28 AFG3L2 Rebecca Foulger Mode of pathogenicity for gene: AFG3L2 was changed from to Other
Adult onset neurodegenerative disorder v0.2 AFG3L2 Rebecca Foulger Added phenotypes Dystonia for gene: AFG3L2
Adult onset neurodegenerative disorder v0.2 AFG3L2 Rebecca Foulger Added phenotypes Spinocerebellar ataxia 28; Spinocerebellar Ataxia, Dominant; Ataxia, spastic, 5, autosomal recessive for gene: AFG3L2
Adult onset neurodegenerative disorder v0.2 AFG3L2 Rebecca Foulger gene: AFG3L2 was added
gene: AFG3L2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: AFG3L2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: AFG3L2 were set to Ataxia, spastic, 5, autosomal recessive; Spastic ataxia 5, autosomal recessive