| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Neuropathy_CMT - isolated v1.38 | MYO9B | Elena Savva Classified gene: MYO9B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v1.38 | MYO9B | Elena Savva Gene: myo9b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v1.37 | MYO9B | Elena Savva Marked gene: MYO9B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v1.37 | MYO9B | Elena Savva Gene: myo9b has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v1.37 | MYO9B |
Melanie Marty gene: MYO9B was added gene: MYO9B was added to Hereditary Neuropathy_CMT - isolated. Sources: Literature Mode of inheritance for gene: MYO9B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYO9B were set to PMID: 36260368 Phenotypes for gene: MYO9B were set to Charcot-Marie-Tooth disease type 2 (MONDO:0018993), MYO9B-related Review for gene: MYO9B was set to AMBER Added comment: PMID: 36260368 2 x families with CMT2 neuropathy (1st family: 2 siblings with hom missense variants + 2nd family: 2 siblings with chet missense and in frame del). 1 patient with isolated optic atrophy with 2 x chet missense variants. Western blot analysis in patient fibroblasts (CMT2 patient with hom missense) showed that MYO9B expression levels were significantly decreased. Myo9b-null mouse model: analysis of sciatic nerve, spinal cord, and optic nerve. A few degenerated myelinated axons and clusters of regenerated axons in sciatic nerves (at 12 months) but the other nerves looked normal. Ultrastructural analysis of optic nerves revealed loss of myelinated fibers, and occasional enlarged axons that contained accumulations of organelles. Sources: Literature |
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