| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Muscular dystrophy and myopathy_Paediatric v0.168 | PAX7 | Bryony Thompson Marked gene: PAX7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.168 | PAX7 | Bryony Thompson Gene: pax7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.168 | PAX7 | Bryony Thompson Classified gene: PAX7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.168 | PAX7 | Bryony Thompson Gene: pax7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.128 | PAX7 |
Sangavi Sivagnanasundram gene: PAX7 was added gene: PAX7 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: PAX7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PAX7 were set to 31092906 Phenotypes for gene: PAX7 were set to Congenital myopathy 19 (MIM#618578) Review for gene: PAX7 was set to GREEN Added comment: Infantile onset of progressive muscle weakness and atrophy PMID: 31092906 5 individuals from 4 unrelated families with consanguineous parents - all having clinical signs of myopathy from birth. Sources: Other |
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