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| Distal myopathies v1.28 | LRIF1 |
Eleanor Williams gene: LRIF1 was added gene: LRIF1 was added to Distal myopathies. Sources: Literature Mode of inheritance for gene: LRIF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRIF1 were set to 32467133 Phenotypes for gene: LRIF1 were set to Facioscapulohumeral muscular dystrophy Review for gene: LRIF1 was set to AMBER Added comment: Review from Bryony Thompson (Royal Melbourne Hospital) on gene in PanelApp Australia. https://panelapp.agha.umccr.org/panels/328/gene/LRIF1/: A single consanguineous case with a homozygous truncating variant, and D4Z4 repeat of 13 units on a 4qA haplotype (permissive haplotype). DZ4Z hypomethylation and increased DUX expression was present in patient cells. siRNA-mediated depletion of LRIF1L in immortalized myoblasts derepressed the DUX4 locus. Sources: Literature |
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| Distal myopathies | DUX4 | Arianna Tucci marked DUX4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Distal myopathies | DUX4 | Arianna Tucci commented on DUX4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Distal myopathies | DUX4 | Arianna Tucci classified DUX4 as red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||