| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Muscular dystrophy and myopathy_Paediatric v0.155 | HRAS | Bryony Thompson Marked gene: HRAS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.155 | HRAS | Bryony Thompson Gene: hras has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.155 | HRAS | Bryony Thompson Classified gene: HRAS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.155 | HRAS | Bryony Thompson Gene: hras has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.128 | HRAS |
Sangavi Sivagnanasundram gene: HRAS was added gene: HRAS was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HRAS were set to 17412879 Phenotypes for gene: HRAS were set to Congenital myopathy with excess of muscle spindles (MIM#218040) Review for gene: HRAS was set to AMBER Added comment: A variant of Costello Syndrome which is typically characterised by diffuse hypotonia, short stature, developmental delay etc. Age of onset - birth to early childhood Most of the mutations related to CMEMS are inherited in an Autosomal Dominant manner, some can be caused by Somatic mutations as well. PMID: 17412879 4 unrelated individuals identified with a mutation in HRAS and clinical features causative of congenital myopathy with excess of muscle spindles (CMEMS). No functional evidence or animal model study conducted yet Sources: Other |
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