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| Adult onset neurodegenerative disorder v3.49 | TTR | Arina Puzriakova Tag Q1_23_promote_green was removed from gene: TTR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v3.49 | TTR | Arina Puzriakova reviewed gene: TTR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v3.48 | TTR |
Arina Puzriakova Source NHS GMS was added to TTR. Source Expert Review Green was added to TTR. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Adult onset neurodegenerative disorder v3.36 | TTR | Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: TTR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v3.36 | TTR | Achchuthan Shanmugasundram Publications for gene: TTR were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v3.35 | TTR | Achchuthan Shanmugasundram Phenotypes for gene: TTR were changed from to Amyloidosis, hereditary, transthyretin-related, OMIM:105210; Carpal tunnel syndrome, familial, OMIM:115430 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v3.34 | TTR | Achchuthan Shanmugasundram Mode of inheritance for gene: TTR was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v3.33 | TTR | Achchuthan Shanmugasundram Classified gene: TTR as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v3.33 | TTR | Achchuthan Shanmugasundram Gene: ttr has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v3.32 | TTR |
Achchuthan Shanmugasundram edited their review of gene: TTR: Added comment: Comment on classification: Sufficient evidence to promote this gene to Green at the next GMS panel update. >3 unrelated cases including relevant phenotypes and with adult-onset reported in patients. This gene has been associated with relevant phenotypes in OMIM, but not in G2P.; Changed phenotypes to: Amyloidosis, hereditary, transthyretin-related, OMIM:105210, Carpal tunnel syndrome, familial, OMIM:115430 |
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| Adult onset neurodegenerative disorder v3.32 | TTR | Achchuthan Shanmugasundram reviewed gene: TTR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Amyloidosis, hereditary, transthyretin-related, OMIM: 105210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v3.4 | TTR | Eleanor Williams reviewed gene: TTR: Rating: ; Mode of pathogenicity: ; Publications: 29779881, 31257920, 34390072, 27466465, 35040071, 25802113, 34663645, 28991667; Phenotypes: Cerebral amyloid angiopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v3.3 | TTR |
Eleanor Williams gene: TTR was added gene: TTR was added to Neurodegenerative disorders - adult onset. Sources: Expert list Mode of inheritance for gene: TTR was set to |
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