| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Muscular dystrophy and myopathy_Paediatric v0.157 | KLHL40 | Bryony Thompson Marked gene: KLHL40 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.157 | KLHL40 | Bryony Thompson Gene: klhl40 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.157 | KLHL40 | Bryony Thompson Classified gene: KLHL40 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.157 | KLHL40 | Bryony Thompson Gene: klhl40 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.128 | KLHL40 |
Sangavi Sivagnanasundram gene: KLHL40 was added gene: KLHL40 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: KLHL40 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KLHL40 were set to 23746549 Phenotypes for gene: KLHL40 were set to Nemaline myopathy 8, autosomal recessive, MIM# 615348 Review for gene: KLHL40 was set to GREEN Added comment: PMID: 23746549 Multiple individuals from unrelated families identified with NEM (both severe and milder forms) Study showed that KLHL40 mutations are more likely to cause severe NEM Identified founder mutation, c.1582G>A, in Japanese population. Was also found in Kurdish and Turkish population. Sources: Other |
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