Hereditary Neuropathy_CMT - isolated
Gene: MYO9BEnsemblGeneIds (GRCh38): ENSG00000099331
EnsemblGeneIds (GRCh37): ENSG00000099331
OMIM: 602129, Gene2Phenotype
MYO9B is in 2 panels
1 review
Melanie Marty (Victorian Clinical Genetics Services)
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: LiteratureCreated: 2 Nov 2023, 1:56 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease type 2 (MONDO:0018993), MYO9B-related
Publications
- PMID: 36260368
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Charcot-Marie-Tooth disease type 2 (MONDO:0018993), MYO9B-related
- OMIM
- 602129
- Clinvar variants
- Variants in MYO9B
- Penetrance
- None
- Publications
-
- PMID: 36260368
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: myo9b has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: myo9b has been removed from the panel.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Melanie Marty (Victorian Clinical Genetics Services)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