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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.14 | LRIF1 |
Eleanor Williams gene: LRIF1 was added gene: LRIF1 was added to Limb girdle muscular dystrophy. 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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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.173 | DUX4 | Ellen McDonagh Marked gene: DUX4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.173 | DUX4 | Ellen McDonagh Gene: dux4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 | DUX4 | Louise Daugherty reviewed gene: DUX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.22 | DUX4 | Natalie Forrester reviewed gene: DUX4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Facioscapulohumeral muscular dystrophy, 158900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.20 | DUX4 | Louise Daugherty Source NHS GMS was added to DUX4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.19 | DUX4 | Louise Daugherty Source South West GLH was added to DUX4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies | DUX4 | Arianna Tucci added DUX4 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies | DUX4 | Arianna Tucci reviewed DUX4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||