| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Muscular dystrophy and myopathy_Paediatric v0.165 | MYOD1 | Bryony Thompson Marked gene: MYOD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.165 | MYOD1 | Bryony Thompson Gene: myod1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.165 | MYOD1 | Bryony Thompson Classified gene: MYOD1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.165 | MYOD1 | Bryony Thompson Gene: myod1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.128 | MYOD1 |
Sangavi Sivagnanasundram gene: MYOD1 was added gene: MYOD1 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: MYOD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYOD1 were set to 26733463; 31260566; 30403323 Phenotypes for gene: MYOD1 were set to Congenital Myopathy 17 (MIM#618975) Review for gene: MYOD1 was set to GREEN Added comment: Onset of condition is typically at birth. PMID: 26733463 3 siblings from a first degree consanguineous family with myopathy phenotype. PMID: 31260566 Two siblings from a fourth degree consansanguineous family with poor weight gain and motor delay and muscle biopsy suggestive of myopathy. PMID: 30403323 Patient with motor delay, hypotonia identified with a homozygous variant in MYOD1 causative of congenital myopathy. The variant was shown to segregate in the family. Sources: Other |
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