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Adult onset leukodystrophy v2.46 | TTR |
Sarah Leigh Tag Q1_23_promote_green was removed from gene: TTR. Tag Q1_23_NHS_review was removed from gene: TTR. |
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Adult onset leukodystrophy v2.46 | TTR | Sarah Leigh commented on gene: TTR: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset leukodystrophy v2.45 | TTR |
Sarah Leigh Source Expert Review Green was added to TTR. Source NHS GMS was added to TTR. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Adult onset leukodystrophy v2.44 | TTR | Sarah Leigh edited their review of gene: TTR: Added comment: Associated with Amyloidosis, hereditary, transthyretin-related (OMIM:105210), but not associated with a phenotype in Gen2Phen. Numerous TTR variants have been reported in cases from different populations.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset leukodystrophy v2.44 | TTR | Sarah Leigh Classified gene: TTR as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset leukodystrophy v2.44 | TTR | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset leukodystrophy v2.44 | TTR | Sarah Leigh Gene: ttr has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset leukodystrophy v2.43 | TTR |
Sarah Leigh Tag Q1_23_promote_green tag was added to gene: TTR. Tag Q1_23_NHS_review tag was added to gene: TTR. |
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Adult onset leukodystrophy v2.43 | TTR | Sarah Leigh Mode of inheritance for gene: TTR was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset leukodystrophy v2.42 | TTR | Sarah Leigh Phenotypes for gene: TTR were changed from to Amyloidosis, hereditary, transthyretin-related, OMIM:105210; familial amyloid neuropathy, MONDO:0007100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset leukodystrophy v2.41 | TTR | Sarah Leigh Publications for gene: TTR were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset leukodystrophy v2.3 | TTR | Eleanor Williams reviewed gene: TTR: Rating: ; Mode of pathogenicity: ; Publications: 25802113, 31257920, 27466465, 34663645, 28991667, 35040071, 29779881, 34390072; Phenotypes: Cerebral amyloid angiopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset leukodystrophy v2.2 | TTR |
Eleanor Williams gene: TTR was added gene: TTR was added to White matter disorders - adult onset. Sources: Expert list Mode of inheritance for gene: TTR was set to |