Activity
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6 actions
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| Hereditary Neuropathy_CMT - isolated v0.99 | ELP1 | Zornitza Stark Marked gene: ELP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.99 | ELP1 | Zornitza Stark Gene: elp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.89 | ELP1 | Zornitza Stark Phenotypes for gene: ELP1 were changed from Dysautonomia, familial, 223900; Hereditary sensory and autonomic neuropathy 3; HSAN/SFN to Dysautonomia, familial, 223900; Riley-Day syndrome MONDO:0009131; Hereditary sensory and autonomic neuropathy 3; HSAN/SFN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.88 | ELP1 | Zornitza Stark Publications for gene: ELP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.87 | ELP1 | Zornitza Stark reviewed gene: ELP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11179008, 11179021, 17644305; Phenotypes: Dysautonomia, familial, MIM# 223900, Riley-Day syndrome MONDO:0009131; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.0 | ELP1 |
Bryony Thompson gene: ELP1 was added gene: ELP1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ELP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ELP1 were set to Dysautonomia, familial, 223900; Hereditary sensory and autonomic neuropathy 3; HSAN/SFN |
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