| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Muscular dystrophy and myopathy_Paediatric v0.178 | FKBP14 | Bryony Thompson Marked gene: FKBP14 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.178 | FKBP14 | Bryony Thompson Gene: fkbp14 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.178 | FKBP14 | Bryony Thompson Classified gene: FKBP14 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.178 | FKBP14 | Bryony Thompson Gene: fkbp14 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.177 | FKBP14 |
Bryony Thompson gene: FKBP14 was added gene: FKBP14 was added to Muscular dystrophy_Paediatric. Sources: Literature Mode of inheritance for gene: FKBP14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FKBP14 were set to 31132235 Phenotypes for gene: FKBP14 were set to Ehlers-Danlos syndrome, kyphoscoliotic and deafness type MONDO:0013800 Review for gene: FKBP14 was set to GREEN gene: FKBP14 was marked as current diagnostic Added comment: Affected individuals typically present at birth with congenital hypotonia and weakness. Sources: Literature |
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