Activity
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6 actions
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| Hereditary neuropathy or pain disorder v6.164 | NOTCH2NL | Arina Puzriakova commented on gene: NOTCH2NL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.164 | NOTCH2NL | Arina Puzriakova Tag new-gene-name tag was added to gene: NOTCH2NL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.139 | NOTCH2NL | Sarah Leigh Classified gene: NOTCH2NL as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.139 | NOTCH2NL | Sarah Leigh Gene: notch2nl has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.138 | NOTCH2NL | Sarah Leigh reviewed gene: NOTCH2NL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.131 | NOTCH2NL |
Christopher Record gene: NOTCH2NL was added gene: NOTCH2NL was added to Hereditary neuropathy or pain disorder. Sources: Literature Mode of inheritance for gene: NOTCH2NL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NOTCH2NL were set to 36948577; 37749855; 34675106 Mode of pathogenicity for gene: NOTCH2NL was set to Other Review for gene: NOTCH2NL was set to GREEN Added comment: [NB NOTCH2NL selected from gene drop down as NOTCH2NLC not available] NOTCH2NLC GGC repeat expansion Reported pure CMT in 26 cases from Japan (36948577), and 7cases from Taiwan (34675106). Chinese NOTC2NLC related NIID cohort also showed peripheral neuropathy in significant proportion (37749855). Anecdotally found in family with CMT of European ancestry (unpublished). Phenotypes included CMT2, CMTi and HMN Sources: Literature |
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