Activity
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10 actions
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| Hereditary neuropathy or pain disorder v6.148 | AAAS |
Sarah Leigh Tag Q3_24_promote_green was removed from gene: AAAS. Tag Q3_24_NHS_review was removed from gene: AAAS. |
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| Hereditary neuropathy or pain disorder v6.148 | AAAS | Sarah Leigh edited their review of gene: AAAS: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.147 | AAAS |
Sarah Leigh Source NHS GMS was added to AAAS. Source Expert Review Green was added to AAAS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hereditary neuropathy or pain disorder v5.19 | AAAS |
Sarah Leigh Tag Q3_24_promote_green tag was added to gene: AAAS. Tag Q3_24_NHS_review tag was added to gene: AAAS. |
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| Hereditary neuropathy or pain disorder v5.19 | AAAS | Sarah Leigh reviewed gene: AAAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.19 | AAAS | Sarah Leigh Publications for gene: AAAS were set to 34796249 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.18 | AAAS | Sarah Leigh Phenotypes for gene: AAAS were changed from ACHALASIA; ADDISONIANISM; ALACRIMA; peripheral neuropathy to Achalasia-addisonianism-alacrimia syndrome, OMIM:231550; Triple-A syndrome, MONDO:0009279 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.17 | AAAS | Sarah Leigh Classified gene: AAAS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.17 | AAAS | Sarah Leigh Gene: aaas has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.16 | AAAS |
Alexander Rossor gene: AAAS was added gene: AAAS was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AAAS were set to 34796249 Phenotypes for gene: AAAS were set to ACHALASIA; ADDISONIANISM; ALACRIMA; peripheral neuropathy Penetrance for gene: AAAS were set to Complete Review for gene: AAAS was set to GREEN Added comment: Sources: Expert list |
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