Activity
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9 actions
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| Hereditary neuropathy or pain disorder v6.148 | ADA2 |
Sarah Leigh Tag Q3_24_promote_green was removed from gene: ADA2. Tag Q3_24_NHS_review was removed from gene: ADA2. |
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| Hereditary neuropathy or pain disorder v6.148 | ADA2 | Sarah Leigh edited their review of gene: ADA2: 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 | ADA2 |
Sarah Leigh Source NHS GMS was added to ADA2. Source Expert Review Green was added to ADA2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hereditary neuropathy or pain disorder v5.40 | ADA2 |
Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ADA2. Tag Q3_24_NHS_review tag was added to gene: ADA2. |
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| Hereditary neuropathy or pain disorder v5.40 | ADA2 | Sarah Leigh reviewed gene: ADA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.40 | ADA2 | Sarah Leigh Phenotypes for gene: ADA2 were changed from VASCULITIS; AUTOINFLAMMATION; IMMUNODEFICIENCY; HEMATOLOGIC DEFECTS; peripheral neuropathy; stroke to Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688; vasculitis due to ADA2 deficiency, MONDO:0014306 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.39 | ADA2 | Sarah Leigh Classified gene: ADA2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.39 | ADA2 | Sarah Leigh Gene: ada2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.16 | ADA2 |
Alexander Rossor gene: ADA2 was added gene: ADA2 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADA2 were set to 34210540:37584090 Phenotypes for gene: ADA2 were set to VASCULITIS; AUTOINFLAMMATION; IMMUNODEFICIENCY; HEMATOLOGIC DEFECTS; peripheral neuropathy; stroke Penetrance for gene: ADA2 were set to Complete Review for gene: ADA2 was set to GREEN Added comment: Sources: Expert list |
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