Muscular dystrophy and myopathy_Paediatric
Gene: EXOSC3

EXOSC3 (exosome component 3)
EnsemblGeneIds (GRCh38): ENSG00000107371
EnsemblGeneIds (GRCh37): ENSG00000107371
OMIM: 606489, Gene2Phenotype
EXOSC3 is in 17 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

A single case reported with congenital myopathy as a feature of the condition (also including PCH).
Sources: Literature
Created: 1 Aug 2024, 1:39 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
congenital myopathy MONDO:0019952

Publications

Created: 1 Aug 2024, 1:39 a.m.

Panel version: 1.49

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Literature

Phenotypes

congenital myopathy MONDO:0019952

OMIM

606489

Clinvar variants

Variants in EXOSC3

Penetrance

None

Publications

Panels with this gene

History Filter Activity

1 Aug 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: exosc3 has been classified as Red List (Low Evidence).

1 Aug 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: EXOSC3 was added gene: EXOSC3 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOSC3 were set to 30025162; 38982518 Phenotypes for gene: EXOSC3 were set to congenital myopathy MONDO:0019952 Review for gene: EXOSC3 was set to RED

Muscular dystrophy and myopathy_Paediatric Gene: EXOSC3