Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: MBEnsemblGeneIds (GRCh38): ENSG00000198125
EnsemblGeneIds (GRCh37): ENSG00000198125
OMIM: 160000, Gene2Phenotype
MB is in 2 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
Single recurrent variant (H98Y) was reported in multiple unrelated families. Only reported pathogenic variant to date.
Sources: OtherCreated: 5 Jun 2023, 7:35 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myopathy, sarcoplasmic body MIM#620286
Publications
Elena Savva (Victorian Clinical Genetics Services)
PMID: 30918256:
- Recurrent c.292C>T (p.His98Tyr) in fourteen members of six European families with AD progressive myopathy.
- Mutant myoglobin has altered O2 binding, exhibits a faster heme dissociation rate and has a lower reduction potential compared to wild-type myoglobin.
- GOF hypothesised
- 2/3 of myoglobin knockout mice die in utero, 1/3 live to adulthood with little sign of functional effects, likely due to multiple compensatory mechanisms.
PMID: 35527200:
- single adult patient with myoglobinopathy
- same recurring p.His98Tyr variant
Sources: LiteratureCreated: 6 Apr 2023, 2:21 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myopathy, sarcoplasmic body MIM#620286
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Other
- Expert Review Green
- Literature
- Phenotypes
-
- Myopathy, sarcoplasmic body MIM#620286
- OMIM
- 160000
- Clinvar variants
- Variants in MB
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: mb has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: mb has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: MB was added gene: MB was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Other Mode of inheritance for gene: MB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MB were set to 35527200; 30918256 Phenotypes for gene: MB were set to Myopathy, sarcoplasmic body MIM#620286 Review for gene: MB was set to GREEN