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| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.24 | HNRNPA1 | Zornitza Stark changed review comment from: PMID 34722876: single multigenerational family reported with distal myopathy and 160bp deletion involving exon 10.; to: PMID 34722876: single multigenerational family reported with slowly progressive distal myopathy and 160bp deletion involving exon 10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.24 | HNRNPA1 | Zornitza Stark Phenotypes for gene: HNRNPA1 were changed from inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 MONDO:0014179 to Myopathy, distal, 3, MIM# 610099; inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 MONDO:0014179 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.23 | HNRNPA1 | Zornitza Stark Publications for gene: HNRNPA1 were set to 23455423; 27066560 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.22 | HNRNPA1 | Zornitza Stark edited their review of gene: HNRNPA1: Added comment: PMID 34722876: single multigenerational family reported with distal myopathy and 160bp deletion involving exon 10.; Changed publications: 23455423, 34291734, 34722876; Changed phenotypes: Amyotrophic lateral sclerosis 20 MIM#615426, Myopathy, distal, 3, MIM# 610099 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.129 | HNRNPA1 | Bryony Thompson Marked gene: HNRNPA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.129 | HNRNPA1 | Bryony Thompson Gene: hnrnpa1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.129 | HNRNPA1 | Bryony Thompson Classified gene: HNRNPA1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.129 | HNRNPA1 | Bryony Thompson Gene: hnrnpa1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.90 | HNRNPA1 |
Bryony Thompson gene: HNRNPA1 was added gene: HNRNPA1 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature Mode of inheritance for gene: HNRNPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HNRNPA1 were set to 23455423; 27066560 Phenotypes for gene: HNRNPA1 were set to inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 MONDO:0014179 Mode of pathogenicity for gene: HNRNPA1 was set to Other Added comment: Protein aggregation is expected to be the mechanism of disease. Most individuals with IBMPFD have limb-girdle weakness Sources: Literature |
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