Muscular dystrophy and myopathy_Paediatric
Gene: UNC45BEnsemblGeneIds (GRCh38): ENSG00000141161
EnsemblGeneIds (GRCh37): ENSG00000141161
OMIM: 611220, Gene2Phenotype
UNC45B is in 3 panels
3 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myofibrillar myopathy 11, MIM# 619178
Elena Savva (Victorian Clinical Genetics Services)
Comment when marking as ready: 10 individuals from 8 families reported with biallelic variants clinically manifesting with childhood-onset, progressive proximal and axial muscle weakness and various degrees of respiratory insufficiency. 4 missense variants and a +5 splice variant reported, p.Arg754Gln is recurrent. Functional studies support pathogenicity.Created: 7 Dec 2020, 4:56 a.m. | Last Modified: 7 Dec 2020, 4:56 a.m.
Panel Version: 1.5
Paul De Fazio (Victorian Clinical Genetics Services)
10 individuals from 8 families reported with biallelic variants clinically manifesting with childhood-onset, progressive proximal and axial muscle weakness and various degrees of respiratory insufficiency. 4 missense variants and a +5 splice variant reported, p.Arg754Gln is recurrent. Functional studies support pathogenicity.
Sources: LiteratureCreated: 7 Dec 2020, 4:54 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Progressive Myopathy with Eccentric Cores
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- OMIM
- 611220
- Clinvar variants
- Variants in UNC45B
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: unc45b has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: unc45b has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)gene: UNC45B was added gene: UNC45B was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature Mode of inheritance for gene: UNC45B was set to BIALLELIC, autosomal or pseudoautosomal