Activity
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13 actions
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.16 | TNNT3 | Arina Puzriakova Phenotypes for gene: TNNT3 were changed from Arthrogryposis, distal, type 2B, 601680; Arthrogryposis to Arthrogryposis, distal, type 2B2, OMIM:618435; Arthrogryposis, distal, type 2B2, MONDO:0032750 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.108 | TNNT3 | Ellen McDonagh changed review comment from: Comment on list classification: This gene will remain Red based on Chiara Marini Bettolo (NUTH) 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 v1.108 | TNNT3 | Ellen McDonagh Classified gene: TNNT3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.108 | TNNT3 | Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on Chiara Marini Bettolo (NUTH) until further evidence for this to be appropriate on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.108 | TNNT3 | Ellen McDonagh Gene: tnnt3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 | TNNT3 | Chiara Marini Bettolo edited their review of gene: TNNT3: Added comment: Arthrogryposis (distal); Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 | TNNT3 | Louise Daugherty Source NHS GMS was added to TNNT3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 | TNNT3 | Louise Daugherty Source Yorkshire and North East GLH was added to TNNT3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.51 | TNNT3 | Louise Daugherty Phenotypes for gene: TNNT3 were changed from Arthrogryposis, distal, type 2B, 601680 to Arthrogryposis, distal, type 2B, 601680; Arthrogryposis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 | TNNT3 | Chiara Marini Bettolo reviewed gene: TNNT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 12592607, 12865991; Phenotypes: Arthrogryposis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 | TNNT3 |
Louise Daugherty Mode of inheritance for gene TNNT3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Arthrogryposis, distal, type 2B, 601680 for gene: TNNT3 Publications for gene TNNT3 were changed from to 12865991; 12592607 |
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 | TNNT3 | Ana Topf reviewed gene: TNNT3: Rating: GREEN; Mode of pathogenicity: ; Publications: 12592607, 12865991; Phenotypes: Arthrogryposis, distal, type 2B, 601680; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.16 | TNNT3 |
Louise Daugherty gene: TNNT3 was added gene: TNNT3 was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: TNNT3 was set to |
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