| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Muscular dystrophy and myopathy_Paediatric v0.156 | KBTBD13 | Bryony Thompson Marked gene: KBTBD13 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.156 | KBTBD13 | Bryony Thompson Gene: kbtbd13 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.156 | KBTBD13 | Bryony Thompson Classified gene: KBTBD13 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.156 | KBTBD13 | Bryony Thompson Gene: kbtbd13 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.128 | KBTBD13 |
Sangavi Sivagnanasundram gene: KBTBD13 was added gene: KBTBD13 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: KBTBD13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KBTBD13 were set to 21104864; 11731279; 21109227 Phenotypes for gene: KBTBD13 were set to Nemaline myopathy 6, autosomal dominant (MIM# 609273; MONDO:0012237) Review for gene: KBTBD13 was set to GREEN Added comment: PMID: 21104864; 11731279; 21109227 4 individuals from unrelated families with clinical features consistent with nemaline myopathy (articles reference the gene NEM6 - previous name) Sources: Other |
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