| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Muscular dystrophy and myopathy_Paediatric v0.134 | DNAJB4 | Bryony Thompson Marked gene: DNAJB4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.134 | DNAJB4 | Bryony Thompson Gene: dnajb4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.134 | DNAJB4 | Bryony Thompson Classified gene: DNAJB4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.134 | DNAJB4 | Bryony Thompson Gene: dnajb4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.133 | DNAJB4 | Bryony Thompson reviewed gene: DNAJB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 36264506; Phenotypes: Myopathy, MONDO:0005336, DNAJB4-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.128 | DNAJB4 |
Sangavi Sivagnanasundram gene: DNAJB4 was added gene: DNAJB4 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: DNAJB4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJB4 were set to 36264506 Phenotypes for gene: DNAJB4 were set to Congenital Myopathy 21 with early respiratory failure (MIM#620326; MONDO:005336) Review for gene: DNAJB4 was set to GREEN Added comment: PMID: 36264506 4 individuals from unrelated families with congenital myopathy with variable age of onset Sources: Other |
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