Muscular dystrophy and myopathy_Paediatric
Gene: UNC45B
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myofibrillar myopathy 11, MIM# 619178
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
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
Gene: unc45b has been classified as Green List (High Evidence).
Gene: unc45b has been classified as Green List (High Evidence).
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