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| Muscular dystrophy and myopathy_Paediatric v0.84 | MPDU1 | Zornitza Stark Marked gene: MPDU1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.84 | MPDU1 | Zornitza Stark Gene: mpdu1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.84 | MPDU1 | Zornitza Stark Classified gene: MPDU1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.84 | MPDU1 | Zornitza Stark Gene: mpdu1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.83 | MPDU1 |
Zornitza Stark gene: MPDU1 was added gene: MPDU1 was added to Muscular dystrophy_Paediatric. Sources: Expert Review Mode of inheritance for gene: MPDU1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPDU1 were set to 11733564; 11733556; 31741824; 29721919 Phenotypes for gene: MPDU1 were set to Congenital disorder of glycosylation, type If, MIM# 609180; MPDU1-CDG, MONDO:0012211 Review for gene: MPDU1 was set to GREEN Added comment: More than 5 unrelated families reported. Prominent ichthyosis reported in some, in addition to neurological features including DD/ID, seizures, hypotonia. Some reported with features overlapping dystroglycanopathy, including raised CK. Sources: Expert Review |
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