| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Muscular dystrophy and myopathy_Paediatric v2.10 | DMD_DMD_GAA | Zornitza Stark Marked STR: DMD_DMD_GAA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v2.10 | DMD_DMD_GAA | Zornitza Stark Str: dmd_dmd_gaa has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v2.10 | Zornitza Stark Copied STR DMD_DMD_GAA from panel Repeat Disorders | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v2.10 | DMD_DMD_GAA |
Zornitza Stark STR: DMD_DMD_GAA was added STR: DMD_DMD_GAA was added to Muscular dystrophy and myopathy_Paediatric. Sources: Expert Review Amber,Literature adult-onset, paediatric-onset tags were added to STR: DMD_DMD_GAA. Mode of inheritance for STR: DMD_DMD_GAA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for STR: DMD_DMD_GAA were set to 27417533; 36048237 Phenotypes for STR: DMD_DMD_GAA were set to Duchenne muscular dystrophy MIM#310200; Becker muscular dystrophy MIM#300376 |
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| Muscular dystrophy and myopathy_Paediatric v2.0 | DMD | Gene migrated from ENSG00000198947 to ENSG00000198947 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.48 | DMD | Zornitza Stark Marked gene: DMD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.48 | DMD | Zornitza Stark Gene: dmd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.48 | DMD | Zornitza Stark Tag SV/CNV tag was added to gene: DMD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.48 | DMD | Zornitza Stark Phenotypes for gene: DMD were changed from to Duchenne muscular dystrophy (MIM#310200); Becker muscular dystrophy (MIM#300376) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.47 | DMD | Zornitza Stark Mode of inheritance for gene: DMD was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.6 | DMD | Crystle Lee reviewed gene: DMD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Duchenne muscular dystrophy (MIM#310200), Becker muscular dystrophy (MIM#300376); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.0 | DMD |
Zornitza Stark gene: DMD was added gene: DMD was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DMD was set to Unknown |
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