| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary systemic amyloidosis v0.18 | TTR | Eleanor Williams changed review comment from: Associated with Amyloidosis, hereditary, transthyretin-related (#105210) in OMIM. Lots of cases reported in OMIM.; to: Associated with Amyloidosis, hereditary, transthyretin-related (#105210) (AD) in OMIM. Lots of cases reported in OMIM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v0.7 | TTR | Eleanor Williams commented on gene: TTR: Associated with Amyloidosis, hereditary, transthyretin-related (#105210) in OMIM. Lots of cases reported in OMIM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v0.7 | TTR | Ellen McDonagh Phenotypes for gene: TTR were changed from 105210 to Amyloidosis, hereditary, transthyretin-related 105210 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v0.6 | TTR | Ellen McDonagh Publications for gene: TTR were set to 30328212; 14640030 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v0.5 | TTR | Ellen McDonagh reviewed gene: TTR: Rating: ; Mode of pathogenicity: None; Publications: 30878017, 31131842, 31118583, 31111153, 30120737; Phenotypes: Amyloidosis, hereditary, transthyretin-related 105210; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v0.5 | TTR | Ellen McDonagh Tag treatable tag was added to gene: TTR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v0.4 | TTR | Eleanor Williams reviewed gene: TTR: Rating: GREEN; Mode of pathogenicity: ; Publications: 30328212, 14640030; Phenotypes: 105210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary systemic amyloidosis v0.3 | TTR |
Eleanor Williams gene: TTR was added gene: TTR was added to Amyloidosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TTR were set to 30328212; 14640030 Phenotypes for gene: TTR were set to 105210 |
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