Activity

Filter

Cancel
Date Panel Item Activity
14 actions
Hereditary ataxia with onset in adulthood v1.188 TGM6 Louise Daugherty commented on gene: TGM6: Downgraded rating from Amber to Red. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Hereditary ataxia with onset in adulthood v1.187 TGM6 Louise Daugherty Source Expert Review Red was added to TGM6.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Hereditary ataxia with onset in adulthood v1.34 TGM6 Louise Daugherty Classified gene: TGM6 as Amber List (moderate evidence)
Hereditary ataxia with onset in adulthood v1.34 TGM6 Louise Daugherty Gene: tgm6 has been classified as Amber List (Moderate Evidence).
Hereditary ataxia with onset in adulthood v1.14 TGM6 Louise Daugherty commented on gene: TGM6: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group
Hereditary ataxia with onset in adulthood v1.13 TGM6 Louise Daugherty Source London North GMS was added to TGM6.
Hereditary ataxia with onset in adulthood v1.11 TGM6 James Polke reviewed gene: TGM6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.9 TGM6 Louise Daugherty Added phenotypes Spinocerebellar ataxia 35 for gene: TGM6
Hereditary ataxia with onset in adulthood v1.8 TGM6 Louise Daugherty reviewed gene: TGM6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.7 TGM6 Tracy Lester reviewed gene: TGM6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 35; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.2 TGM6 Louise Daugherty Source NHS GMS was added to TGM6.
Hereditary ataxia with onset in adulthood v1.1 TGM6 Louise Daugherty Source Wessex and West Midlands GLH was added to TGM6.
Hereditary ataxia with onset in adulthood v0.52 TGM6 Louise Daugherty Phenotypes for gene: TGM6 were changed from Spinocerebellar ataxia 35 to Spinocerebellar ataxia 35, 613908
Hereditary ataxia with onset in adulthood v0.2 TGM6 Eleanor Williams gene: TGM6 was added
gene: TGM6 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: TGM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TGM6 were set to Spinocerebellar ataxia 35