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| Genomic screening in children: BabyScreen+ v0.46 | DMD |
Zornitza Stark Tag clinical trial tag was added to gene: DMD. Tag neurological tag was added to gene: DMD. |
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| Genomic screening in children: BabyScreen+ v0.38 | DMD | Zornitza Stark Marked gene: DMD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic screening in children: BabyScreen+ v0.38 | DMD | Zornitza Stark Gene: dmd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic screening in children: BabyScreen+ v0.38 | DMD | Zornitza Stark Classified gene: DMD as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic screening in children: BabyScreen+ v0.38 | DMD | Zornitza Stark Gene: dmd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic screening in children: BabyScreen+ v0.37 | DMD |
Zornitza Stark gene: DMD was added gene: DMD was added to Genomic screening in children: BabyScreen+. Sources: Expert Review Mode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: DMD were set to Duchenne muscular dystrophy MIM#310200 Review for gene: DMD was set to GREEN Added comment: Well established gene-disease association. Milder phenotypes such as BMD and DCM are also associated with variants in this gene. Females typically at risk for cardiac disease only. Onset in early childhood. Treatment: Eteplirsen, Casimersen and Golodirsen for exon skipping 51, 45 and 53, respectively. Vitolarsen has also been approved for exon 53 skipping. Pilots are underway to assess NBS for DMD, including one planned in NSW. Most programs are based on raised CK levels. Discussed with Neurology: include. Sources: Expert Review |
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