Congenital myopathy

Gene: UNC45B

Amber List (moderate evidence)

UNC45B (unc-45 myosin chaperone B)
EnsemblGeneIds (GRCh38): ENSG00000141161
EnsemblGeneIds (GRCh37): ENSG00000141161
OMIM: 611220, Gene2Phenotype
UNC45B is in 1 panel

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Created: 17 Mar 2022, 10:56 a.m. | Last Modified: 17 Mar 2022, 10:56 a.m.
Panel Version: 2.83
There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 19 Jan 2021, 6:03 p.m. | Last Modified: 19 Jan 2021, 6:03 p.m.
Panel Version: 2.20
Comment on phenotypes: UNC45B-associated Progressive Myopathy with Eccentric Cores (Gen2Phen)(https://www.ebi.ac.uk/gene2phenotype/gfd?search_type=gfd&dbID=4636). OMIM, MONDO and Orphanet have yet to list this phenotype (20210119)
Created: 19 Jan 2021, 6:03 p.m. | Last Modified: 19 Jan 2021, 6:03 p.m.
Panel Version: 2.20
Comment on list classification: Not associated with relevant phenotype in OMIM (OMIM have been notified about PMID 33217308) and as probable Gen2Phen gene for UNC45B-associated Progressive Myopathy with Eccentric Cores. At least 5 variants reported in at least 6 apparently unrelated cases, together with supportive functional studies.
Created: 19 Jan 2021, 5:58 p.m. | Last Modified: 19 Jan 2021, 6:03 p.m.
Panel Version: 2.20

Zornitza Stark (Australian Genomics)

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: 9 Dec 2020, 7:59 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Progressive Myopathy with Eccentric Cores

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Progressive Myopathy with Eccentric Cores
Tags
to_be_confirmed_NHSE
OMIM
611220
Clinvar variants
Variants in UNC45B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Mar 2022, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag to_be_confirmed_NHSE tag was added to gene: UNC45B.

17 Mar 2022, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: unc45b has been classified as Amber List (Moderate Evidence).

9 Mar 2022, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag for-review was removed from gene: UNC45B.

9 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to UNC45B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

19 Jan 2021, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: UNC45B were changed from Progressive Myopathy with Eccentric Cores to Progressive Myopathy with Eccentric Cores

19 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: unc45b has been classified as Amber List (Moderate Evidence).

19 Jan 2021, Gel status: 0

Added Tag

Sarah Leigh (Genomics England Curator)

Tag for-review tag was added to gene: UNC45B.

9 Dec 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: UNC45B was added gene: UNC45B was added to Congenital myopathy. Sources: Literature 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 Progressive Myopathy with Eccentric Cores Review for gene: UNC45B was set to GREEN