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| Hereditary Neuropathy_CMT - isolated v1.54 | RFC1_CANVAS_ANNGN | Bryony Thompson Marked STR: RFC1_CANVAS_ANNGN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v1.54 | RFC1_CANVAS_ANNGN | Bryony Thompson Str: rfc1_canvas_anngn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v1.54 | RFC1_CANVAS_ANNGN | Bryony Thompson Classified STR: RFC1_CANVAS_ANNGN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v1.54 | RFC1_CANVAS_ANNGN | Bryony Thompson Str: rfc1_canvas_anngn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v1.53 | RFC1_CANVAS_ANNGN |
Bryony Thompson STR: RFC1_CANVAS_ANNGN was added STR: RFC1_CANVAS_ANNGN was added to Hereditary Neuropathy_CMT - isolated. Sources: Literature Mode of inheritance for STR: RFC1_CANVAS_ANNGN was set to BIALLELIC, autosomal or pseudoautosomal Publications for STR: RFC1_CANVAS_ANNGN were set to 36061987 Phenotypes for STR: RFC1_CANVAS_ANNGN were set to Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome MONDO:0044720 Review for STR: RFC1_CANVAS_ANNGN was set to GREEN STR: RFC1_CANVAS_ANNGN was marked as clinically relevant STR: RFC1_CANVAS_ANNGN was marked as current diagnostic Added comment: Cases present with HSAN without ataxia and biallelic expansions. Sources: Literature |
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