Muscular dystrophy and myopathy_Paediatric

Gene: UNC45B

Green List (high evidence)

UNC45B (unc-45 myosin chaperone B)
EnsemblGeneIds (GRCh38): ENSG00000141161
EnsemblGeneIds (GRCh37): ENSG00000141161
OMIM: 611220, Gene2Phenotype
UNC45B is in 3 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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)

Green List (high evidence)

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: Literature
Created: 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

1 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: unc45b has been classified as Green List (High Evidence).

1 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: unc45b has been classified as Green List (High Evidence).

1 Aug 2024, Gel status: 1

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