| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Muscular dystrophy and myopathy_Paediatric v0.147 | CNTN1 | Bryony Thompson Marked gene: CNTN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.147 | CNTN1 | Bryony Thompson Gene: cntn1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.147 | CNTN1 | Bryony Thompson Classified gene: CNTN1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.147 | CNTN1 | Bryony Thompson Gene: cntn1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.128 | CNTN1 |
Sangavi Sivagnanasundram gene: CNTN1 was added gene: CNTN1 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: CNTN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CNTN1 were set to 10926398 Phenotypes for gene: CNTN1 were set to Congenital Myopathy 12, Compton-North myopathy (MONDO:0012929; MIM#612540) Review for gene: CNTN1 was set to AMBER Added comment: PMID: 10926398 single family reported with clinical features consistent with severe lethal myopathy (age of onset is unknown as only one family has been reported) Sources: Other |
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