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| Muscular dystrophy and myopathy_Paediatric v0.173 | TPM3 | Bryony Thompson Marked gene: TPM3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.173 | TPM3 | Bryony Thompson Gene: tpm3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.173 | TPM3 | Bryony Thompson Classified gene: TPM3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.173 | TPM3 | Bryony Thompson Gene: tpm3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.128 | TPM3 | Sangavi Sivagnanasundram edited their review of gene: TPM3: Changed mode of pathogenicity: Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.128 | TPM3 |
Sangavi Sivagnanasundram gene: TPM3 was added gene: TPM3 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: TPM3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TPM3 were set to 26418456; 18300303; 10619715; 12196661; 18382475 Phenotypes for gene: TPM3 were set to Congenital myopathy 4A, autosomal dominant (MIM#255310); Congenital myopathy 4B, autosomal recessive (MIM#609284) Review for gene: TPM3 was set to GREEN Added comment: Variable age of onset due to the variability of phenotypes. Mutations in TPM3 cause a diverse group of congenital myopathies all characterised by muscle weakness/hypotonia. AD Congenital Myopathy: PMID: 26418456 Quantitative in vitro motility assay show that gain of function is mechanism of disease - mutations in the TPM3 gene led to an increased function in the myofibres/muscle cells. 2 unrelated individuals with ΔE218 and ΔE224 de novo deletions in TPM3 with muscle stiffness. Both muscle biopsies showed features of mild myopathy. PMID: 18300303 4 individuals with phenotypic features of congenital myopathy and mutation present in TPM3 AR Congenital myopathy: PMID: 10619715 Individual from consanguineous parents with severe symptoms of congenital myopathy PMID: 12196661 Individual who is a compound heterozygote for nemaline myopathy PMID: 18382475 Affected individuals from two turkish families with myopathy phenotypes. Sources: Other |
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