Activity
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13 actions
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| Hereditary neuropathy or pain disorder v6.148 | SAMD9L |
Sarah Leigh Tag Q3_24_promote_green was removed from gene: SAMD9L. Tag Q3_24_NHS_review was removed from gene: SAMD9L. |
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| Hereditary neuropathy or pain disorder v6.148 | SAMD9L | Sarah Leigh reviewed gene: SAMD9L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.147 | SAMD9L |
Sarah Leigh Source NHS GMS was added to SAMD9L. Source Expert Review Green was added to SAMD9L. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hereditary neuropathy or pain disorder v6.79 | SAMD9L | Eleanor Williams Classified gene: SAMD9L as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.79 | SAMD9L | Eleanor Williams Added comment: Comment on list classification: Promoting to amber with a recommendation for green rating following GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.79 | SAMD9L | Eleanor Williams Gene: samd9l has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.78 | SAMD9L | Eleanor Williams Publications for gene: SAMD9L were set to ataxia; peripheral neuropathy; pancytopenia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.77 | SAMD9L | Eleanor Williams Phenotypes for gene: SAMD9L were changed from 32808377: 36553623 : 31053103: 27259050: 28202457 to Ataxia-pancytopenia syndrome, OMIM:159550; ataxia-pancytopenia syndrome, MONDO:0008038 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.76 | SAMD9L | Eleanor Williams Mode of pathogenicity for gene: SAMD9L was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.75 | SAMD9L |
Eleanor Williams Tag missense tag was added to gene: SAMD9L. Tag mosaicism tag was added to gene: SAMD9L. Tag Q3_24_promote_green tag was added to gene: SAMD9L. Tag Q3_24_NHS_review tag was added to gene: SAMD9L. |
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| Hereditary neuropathy or pain disorder v6.75 | SAMD9L | Eleanor Williams edited their review of gene: SAMD9L: Changed rating: GREEN; Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Changed publications to: 32808377, 36553623, 31053103, 27259050, 28202457; Changed phenotypes to: Ataxia-pancytopenia syndrome, OMIM:159550, ataxia-pancytopenia syndrome, MONDO:0008038; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.75 | SAMD9L | Eleanor Williams commented on gene: SAMD9L | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.19 | SAMD9L |
Alexander Rossor gene: SAMD9L was added gene: SAMD9L was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: SAMD9L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SAMD9L were set to ataxia; peripheral neuropathy; pancytopenia Phenotypes for gene: SAMD9L were set to 32808377: 36553623 : 31053103: 27259050: 28202457 Penetrance for gene: SAMD9L were set to Complete Review for gene: SAMD9L was set to GREEN Added comment: Sources: Expert list |
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