| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Muscular dystrophy and myopathy_Paediatric v0.172 | TPM2 | Bryony Thompson Marked gene: TPM2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.172 | TPM2 | Bryony Thompson Gene: tpm2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.172 | TPM2 | Bryony Thompson Classified gene: TPM2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.172 | TPM2 | Bryony Thompson Gene: tpm2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.128 | TPM2 |
Sangavi Sivagnanasundram gene: TPM2 was added gene: TPM2 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: TPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TPM2 were set to 17846275; 23378224 Phenotypes for gene: TPM2 were set to Nemaline myopathy 4, autosomal dominant (MIM#609285) Review for gene: TPM2 was set to GREEN Added comment: - Variable age of onset - Phenotypic symptoms overlap with CAP syndrome PMID: 17846275 2 individuals identified with mutations in TPM2 however only one had clinical features and a muscle biopsy (with an accumulation of nemaline rods), concordant with nemaline myopathy. PMID: 23378224 8 individuals from 5 unrelated families Presence of congenital contractures in early childhood and all had the presence of rods in their muscle biopsies Sources: Other |
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