| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.107 | TNPO3 | Ellen McDonagh Classified gene: TNPO3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.107 | TNPO3 | Ellen McDonagh Gene: tnpo3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.106 | TNPO3 | Ellen McDonagh Classified gene: TNPO3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.106 | TNPO3 | Ellen McDonagh Added comment: Comment on list classification: Based on expert review from Chiara Marini Bettolo (NUTH), this gene has been promoted from Red to Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.106 | TNPO3 | Ellen McDonagh Gene: tnpo3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 | TNPO3 | Chiara Marini Bettolo reviewed gene: TNPO3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.96 | TNPO3 |
Louise Daugherty Source NHS GMS was added to TNPO3. Source Yorkshire and North East GLH was added to TNPO3. |
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.91 | TNPO3 |
Louise Daugherty gene: TNPO3 was added gene: TNPO3 was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: TNPO3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TNPO3 were set to Muscular dystrophy, limb-girdle, autosomal dominant 2, 608423 Review for gene: TNPO3 was set to AMBER Added comment: New gene requested to be added to panel by Chiara Marini Bettolo (NUTH) on behalf of Yorkshire North East Sources: Expert Review |
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