Activity
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| Hereditary neuropathy or pain disorder v7.29 | ARHGAP19 | Achchuthan Shanmugasundram Tag Q3_25_NHS_review tag was added to gene: ARHGAP19. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.29 | ARHGAP19 | Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: ARHGAP19. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.29 | ARHGAP19 | Achchuthan Shanmugasundram Classified gene: ARHGAP19 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.29 | ARHGAP19 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Alexander Rossor, there are multiple unrelated families reported with biallelic ARHGAP19 variants and with motor-predominant neuropathy. Hence, this gene should be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.29 | ARHGAP19 | Achchuthan Shanmugasundram Gene: arhgap19 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.28 | ARHGAP19 | Achchuthan Shanmugasundram Phenotypes for gene: ARHGAP19 were changed from motor axonal neuropathy to motor peripheral neuropathy, MONDO:0002316 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.27 | ARHGAP19 | Achchuthan Shanmugasundram reviewed gene: ARHGAP19: Rating: GREEN; Mode of pathogenicity: None; Publications: 41086021; Phenotypes: motor peripheral neuropathy, MONDO:0002316; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.25 | ARHGAP19 |
Alexander Rossor gene: ARHGAP19 was added gene: ARHGAP19 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: ARHGAP19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARHGAP19 were set to 41086021 Phenotypes for gene: ARHGAP19 were set to motor axonal neuropathy Penetrance for gene: ARHGAP19 were set to Complete Review for gene: ARHGAP19 was set to GREEN Added comment: multiple affected families Sources: Expert list |
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