| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Muscular dystrophy and myopathy_Paediatric v0.145 | CHST14 | Bryony Thompson Marked gene: CHST14 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.145 | CHST14 | Bryony Thompson Gene: chst14 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.145 | CHST14 | Bryony Thompson Classified gene: CHST14 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.145 | CHST14 | Bryony Thompson Gene: chst14 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.144 | CHST14 |
Bryony Thompson gene: CHST14 was added gene: CHST14 was added to Muscular dystrophy_Paediatric. Sources: Expert list Mode of inheritance for gene: CHST14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHST14 were set to 26373698; 20842734; 36833362 Phenotypes for gene: CHST14 were set to Ehlers-Danlos syndrome, musculocontractural type 1 MIM# 601776 Review for gene: CHST14 was set to GREEN gene: CHST14 was marked as current diagnostic Added comment: Well-established gene-disease association. MC-EDS represents a differential diagnosis within the congenital myopathy spectrum of disease. Myopathy also present in the null mouse model. Sources: Expert list |
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