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DDG2P

Gene: UNC45B

Green List (high evidence)
UNC45B (unc-45 myosin chaperone B)
EnsemblGeneIds (GRCh38): ENSG00000141161
EnsemblGeneIds (GRCh37): ENSG00000141161
OMIM: 611220, Gene2Phenotype
UNC45B is in 2 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for UNC45B-related progressive myopathy with eccentric cores are strong, biallelic_autosomal and undetermined (PMID:33217308). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03074.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease UNC45B-associated Progressive Myopathy with Eccentric Cores is strong. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID:33217308).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
UNC45B-associated Progressive Myopathy with Eccentric Cores; UNC45B-related progressive myopathy with eccentric cores; OMIM:619178.0; MONDO:0030927

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • UNC45B-associated Progressive Myopathy with Eccentric Cores
OMIM
611220
Clinvar variants
Variants in UNC45B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: UNC45B was changed from Other to None

4 Oct 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

gene: UNC45B was added gene: UNC45B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UNC45B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UNC45B were set to 33217308 Phenotypes for gene: UNC45B were set to UNC45B-associated Progressive Myopathy with Eccentric Cores Mode of pathogenicity for gene: UNC45B was set to Other