Activity
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9 actions
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| Hereditary neuropathy or pain disorder v6.148 | ASAH1 |
Sarah Leigh Tag Q3_24_promote_green was removed from gene: ASAH1. Tag Q3_24_NHS_review was removed from gene: ASAH1. |
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| Hereditary neuropathy or pain disorder v6.148 | ASAH1 | Sarah Leigh commented on gene: ASAH1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.147 | ASAH1 |
Sarah Leigh Source NHS GMS was added to ASAH1. Source Expert Review Green was added to ASAH1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hereditary neuropathy or pain disorder v6.28 | ASAH1 | Sarah Leigh Phenotypes for gene: ASAH1 were changed from Progressive myoclonic epilepsy; motor neuropathy to spinal muscular atrophy-progressive myoclonic epilepsy syndrome, MONDO:0008045; Spinal muscular atrophy with progressive myoclonic epilepsy, OMIM:159950 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.25 | ASAH1 | Sarah Leigh Classified gene: ASAH1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.25 | ASAH1 | Sarah Leigh Gene: asah1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.24 | ASAH1 |
Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ASAH1. Tag Q3_24_NHS_review tag was added to gene: ASAH1. |
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| Hereditary neuropathy or pain disorder v6.20 | ASAH1 | Sarah Leigh reviewed gene: ASAH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 534421, 22703880; Phenotypes: spinal muscular atrophy-progressive myoclonic epilepsy syndrome, MONDO:0008045, Spinal muscular atrophy with progressive myoclonic epilepsy, OMIM:159950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.19 | ASAH1 |
Alexander Rossor gene: ASAH1 was added gene: ASAH1 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASAH1 were set to 24164096: 12571787: 534421: 22703880 Phenotypes for gene: ASAH1 were set to Progressive myoclonic epilepsy; motor neuropathy Penetrance for gene: ASAH1 were set to Complete Review for gene: ASAH1 was set to GREEN Added comment: multiple affected individuals with peripheral neuropathy Sources: Expert list |
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