| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hyperthyroidism v2.13 | TTR | Ivone Leong Tag for-review was removed from gene: TTR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v2.13 | TTR | Ivone Leong commented on gene: TTR: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v2.12 | TTR |
Ivone Leong Source Expert Review Green was added to TTR. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hyperthyroidism v2.7 | TTR | Arina Puzriakova Classified gene: TTR as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v2.7 | TTR | Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v2.7 | TTR | Arina Puzriakova Gene: ttr has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v2.6 | TTR | Arina Puzriakova Tag for-review tag was added to gene: TTR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v2.6 | TTR | Ivone Leong Classified gene: TTR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v2.6 | TTR | Ivone Leong Added comment: Comment on list classification: Based on expert review by David Halsall (Cambridge University Hospitals Trust), there is enough evidence to support a gene-disease association for TTR. Therefore this gene has been given Green status. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v2.6 | TTR | Ivone Leong Gene: ttr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v2.5 | TTR | Ivone Leong Phenotypes for gene: TTR were changed from # 145680 HYPERTHYROXINEMIA, DYSTRANSTHYRETINEMIC; DTTRH to [Dystransthyretinemic hyperthyroxinemia], 145680; DTTRH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v2.4 | TTR | Ivone Leong Publications for gene: TTR were set to PMID: 31590893; 26522458 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v2.3 | TTR |
david halsall gene: TTR was added gene: TTR was added to Hyperthyroidism. Sources: Literature Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TTR were set to PMID: 31590893; 26522458 Phenotypes for gene: TTR were set to # 145680 HYPERTHYROXINEMIA, DYSTRANSTHYRETINEMIC; DTTRH Penetrance for gene: TTR were set to unknown Mode of pathogenicity for gene: TTR was set to Other Review for gene: TTR was set to GREEN Added comment: Specific gain of function sequence variants in TTE can cause method dependent factitious increases in serum free thyroxine when measured by commercial competive immunoassay methods. V30M, S77Y, I84S, V122I have been reported. These varients need to be considered separately from loss of function at the locus which is associated with an amyloidogenic phenotype (familial transthyretin amyloidosis). Sources: Literature |
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