Congenital muscular dystrophy
Gene: DUX4Comment on mode of pathogenicity: Macrosatellite repeats.Created: 25 Jan 2017, 12:15 p.m.
Added the CNV and 'currently ngs unreportable' tag - see publications for more details.Created: 25 Jan 2017, 12:10 p.m.
Added 'treatable' tag, as tyrosine kinase inhibitors may be a potential treatment for facioscapulohumeral dystrophy: see PMID: 27841748, or antisense therapy: PMID: 27672539.Created: 25 Jan 2017, 12:09 p.m.
Phenotypes
Facioscapulohumeral Muscular Dystrophy 1A
Source was removed from DUX4.
Mode of inheritance for gene: DUX4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
27.01.2017 Panel revised after expert review and internal review with further curation.
Mode of pathogenicity for DUX4 was changed to Other - please provide details in the comments
Publications for DUX4 were set to 28040729; 27922500; 27816329; 27841748;27672539
Publications for DUX4 were set to 28040729;27922500;27816329;27841748
Publications for DUX4 were set to 28040729;27922500
Publications for DUX4 were set to 28040729
DUX4 was added to Congenital muscular dystrophypanel. Source:
DUX4 was added to Congenital muscular dystrophypanel. Sources: UKGTN