| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.108 | TPM2 | Ellen McDonagh changed review comment from: Comment on list classification: Gene to be kept Red until further evidence for this to be appropriate on this panel.; to: Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.105 | TPM2 | Ellen McDonagh Classified gene: TPM2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.105 | TPM2 | Ellen McDonagh Added comment: Comment on list classification: Gene to be kept Red until further evidence for this to be appropriate on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.105 | TPM2 | Ellen McDonagh Gene: tpm2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 | TPM2 | Chiara Marini Bettolo reviewed gene: TPM2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 | TPM2 | Louise Daugherty Source NHS GMS was added to TPM2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 | TPM2 | Louise Daugherty Source Yorkshire and North East GLH was added to TPM2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 | TPM2 |
Louise Daugherty Mode of inheritance for gene TPM2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Arthrogryposis multiplex congenita, distal, type 1, 108120 for gene: TPM2 Publications for gene TPM2 were changed from to 7977374; 12592607 |
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 | TPM2 | Ana Topf reviewed gene: TPM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 12592607, 7977374; Phenotypes: Arthrogryposis multiplex congenita, distal, type 1, 108120; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 | TPM2 |
Louise Daugherty gene: TPM2 was added gene: TPM2 was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: TPM2 was set to |
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