| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Hereditary Neuropathy v1.141 | Bryony Thompson Copied gene NEFL from panel Hereditary Neuropathy_CMT - isolated | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v1.141 | NEFL |
Bryony Thompson gene: NEFL was added gene: NEFL was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: NEFL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: NEFL were set to 10841809; 12393795; 14733962; 24887401; 25877835; 20039262; 12566280; 29191368; 28902413 Phenotypes for gene: NEFL were set to Charcot Marie Tooth disease, type 2E, 607684; Charcot-Marie-Tooth disease, dominant intermediate G, 617882; HMSN; Charcot Marie Tooth disease, type 1F, 607734 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||