Activity

Filter

Cancel
Date Panel Item Activity
9 actions
Hereditary neuropathy or pain disorder v6.154 ATXN3_CAG Sarah Leigh Classified STR: ATXN3_CAG as Green List (high evidence)
Hereditary neuropathy or pain disorder v6.154 ATXN3_CAG Sarah Leigh Str: atxn3_cag has been classified as Green List (High Evidence).
Hereditary neuropathy or pain disorder v6.153 ATXN3_CAG Sarah Leigh Tag Q3_24_promote_green was removed from STR: ATXN3_CAG.
Tag Q3_24_NHS_review was removed from STR: ATXN3_CAG.
Hereditary neuropathy or pain disorder v6.153 ATXN3_CAG Sarah Leigh commented on STR: ATXN3_CAG: The rating of this STR has been updated to green following NHS Genomic Medicine Service approval.
Hereditary neuropathy or pain disorder v5.34 ATXN3_CAG Sarah Leigh Gene was set to ATXN3.
Hereditary neuropathy or pain disorder v5.33 ATXN3_CAG Sarah Leigh Phenotypes for STR: ATXN3_CAG were changed from Ataxia neuropathy syndromes to Machado-Joseph disease, OMIM:109150
Hereditary neuropathy or pain disorder v5.32 ATXN3_CAG Sarah Leigh Classified STR: ATXN3_CAG as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v5.32 ATXN3_CAG Sarah Leigh Str: atxn3_cag has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v5.31 ATXN3_CAG Sarah Leigh STR: ATXN3_CAG was added
STR: ATXN3_CAG was added to Hereditary neuropathy or pain disorder. Sources: NHS GMS
Q3_24_promote_green, Q3_24_NHS_review, STR tags were added to STR: ATXN3_CAG.
Mode of inheritance for STR: ATXN3_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN3_CAG were set to Ataxia neuropathy syndromes
Review for STR: ATXN3_CAG was set to GREEN
Added comment: ATXN3_CAG added to Hereditary neuropathy or pain disorder panel on the recommendation of Alex Rossor (UCL Institute of Neurology), who recommended its promotion to Green.
Sources: NHS GMS