| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Muscular dystrophy and myopathy_Paediatric v0.174 | TRIP4 | Bryony Thompson Marked gene: TRIP4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.174 | TRIP4 | Bryony Thompson Gene: trip4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.174 | TRIP4 | Bryony Thompson Classified gene: TRIP4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.174 | TRIP4 | Bryony Thompson Gene: trip4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.128 | TRIP4 |
Sangavi Sivagnanasundram gene: TRIP4 was added gene: TRIP4 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: TRIP4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRIP4 were set to 27008887; 31794073 Phenotypes for gene: TRIP4 were set to ?Muscular dystrophy, congenital, Davignon-Chauveau type (MIM#617066) Review for gene: TRIP4 was set to GREEN Added comment: PMID: 27008887 4 individuals from a consanguineous French family with congenital muscular dystrophy PMID: 31794073 5 individuals from unrelated families with phenotypic onset in childhood or at birth consistent with congenital muscular dystrophy. Sources: Other |
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