| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Muscular dystrophy and myopathy_Paediatric v0.158 | KLHL41 | Bryony Thompson Marked gene: KLHL41 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.158 | KLHL41 | Bryony Thompson Gene: klhl41 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.158 | KLHL41 | Bryony Thompson Classified gene: KLHL41 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.158 | KLHL41 | Bryony Thompson Gene: klhl41 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.128 | KLHL41 |
Sangavi Sivagnanasundram gene: KLHL41 was added gene: KLHL41 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: KLHL41 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KLHL41 were set to 24268659 Phenotypes for gene: KLHL41 were set to Nemaline Myopathy 9 (MIM#615731; MONDO:0014326) Review for gene: KLHL41 was set to GREEN Added comment: Age of onset is not definitive - condition has high phenotypic variability PMID: 24268659 Zebrafish functional study model showed the loss of function of KLHL41 resulting in highly diminished motor function. 5 unrelated children with nemaline myopathy 9. Muscle biopsies in individuals showed the presence of sarcoplamisc rods in myofibers. Sources: Other |
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