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| Hereditary Neuropathy_CMT - isolated v0.31 | SIGMAR1 | Zornitza Stark Marked gene: SIGMAR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.31 | SIGMAR1 | Zornitza Stark Gene: sigmar1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.31 | SIGMAR1 | Zornitza Stark Phenotypes for gene: SIGMAR1 were changed from ?Distal spinal muscular atrophy, autosomal recessive 2; dHMN/dSMA to ?Distal spinal muscular atrophy, autosomal recessive 2; dHMN/dSMA; Distal hereditary motor neuropathy of Jerash type (HMNJ) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.30 | SIGMAR1 | Zornitza Stark Publications for gene: SIGMAR1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.29 | SIGMAR1 | Zornitza Stark reviewed gene: SIGMAR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31511340; Phenotypes: Distal hereditary motor neuropathy of Jerash type (HMNJ); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.0 | SIGMAR1 |
Bryony Thompson gene: SIGMAR1 was added gene: SIGMAR1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: SIGMAR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SIGMAR1 were set to ?Distal spinal muscular atrophy, autosomal recessive 2; dHMN/dSMA |
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