Activity

Filter

Cancel
Date Panel Item Activity
19 actions
Adult onset hereditary spastic paraplegia v1.102 AFG3L2 Arina Puzriakova Phenotypes for gene: AFG3L2 were changed from Spastic ataxia 5, autosomal recessive OMIM:614487; spastic ataxia 5 MONDO:0013776; Spinocerebellar ataxia 28 OMIM:610246; spinocerebellar ataxia type 28 MONDO:0012450 to Spastic ataxia 5, autosomal recessive, OMIM:614487
Adult onset hereditary spastic paraplegia v1.95 AFG3L2 Ivone Leong Tag Q2_21_phenotype was removed from gene: AFG3L2.
Tag Q2_21_MOI was removed from gene: AFG3L2.
Adult onset hereditary spastic paraplegia v1.95 AFG3L2 Sarah Leigh commented on gene: AFG3L2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Adult onset hereditary spastic paraplegia v1.94 AFG3L2 Ivone Leong Source Expert Review Amber was added to AFG3L2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset hereditary spastic paraplegia v1.21 AFG3L2 Sarah Leigh Phenotypes for gene: AFG3L2 were changed from Spastic ataxia 5, autosomal recessive; Ataxia, spastic, 5, autosomal recessive; Spinocerebellar ataxia 28, autosomal dominant, 610246 to Spastic ataxia 5, autosomal recessive OMIM:614487; spastic ataxia 5 MONDO:0013776; Spinocerebellar ataxia 28 OMIM:610246; spinocerebellar ataxia type 28 MONDO:0012450
Adult onset hereditary spastic paraplegia v1.20 AFG3L2 Sarah Leigh commented on gene: AFG3L2
Adult onset hereditary spastic paraplegia v1.20 AFG3L2 Sarah Leigh Tag Q2_21_MOI tag was added to gene: AFG3L2.
Adult onset hereditary spastic paraplegia v1.20 AFG3L2 Sarah Leigh Tag Q2_21_phenotype tag was added to gene: AFG3L2.
Adult onset hereditary spastic paraplegia v1.7 AFG3L2 Zornitza Stark reviewed gene: AFG3L2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic ataxia 5, autosomal recessive 614487; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.148 AFG3L2 Louise Daugherty commented on gene: AFG3L2: 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 AFG3L2 Louise Daugherty Deleted their comment
Adult onset hereditary spastic paraplegia v0.54 AFG3L2 Louise Daugherty Source Yorkshire and North East GLH was added to AFG3L2.
Adult onset hereditary spastic paraplegia v0.53 AFG3L2 Louise Daugherty commented on gene: AFG3L2: 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 v0.52 AFG3L2 Nick Beauchamp reviewed gene: AFG3L2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.6 AFG3L2 Louise Daugherty reviewed gene: AFG3L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.5 AFG3L2 James Polke reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia, spastic, 5, autosomal recessive, Spastic ataxia 5, autosomal recessive, Spinocerebellar ataxia 28, autosomal dominant, 610246; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.4 AFG3L2 Louise Daugherty Source Expert Review Green was added to AFG3L2.
Mode of inheritance for gene AFG3L2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic ataxia 5, autosomal recessive; Ataxia, spastic, 5, autosomal recessive; Spinocerebellar ataxia 28, autosomal dominant, 610246 for gene: AFG3L2
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.3 AFG3L2 Louise Daugherty Source NHS GMS was added to AFG3L2.
Adult onset hereditary spastic paraplegia v0.2 AFG3L2 Louise Daugherty gene: AFG3L2 was added
gene: AFG3L2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: AFG3L2 was set to