Activity
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11 actions
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| Hyperthyroidism v0.3 | ALB |
Anna Le Fevre edited their review of gene: ALB: Added comment: Gain of function mechanism. Specific variants in ALB cause increased binding affinity for thyroid hormones. Immunoassay methods may show variably elevated free thyroid hormone levels. Individuals are euthyroid and identification is important to avoid unnecessary medical or surgical treatment. Allelic conditions: #616000 ANALBUMINEMIA; ANALBA Biallelic loss of function variants cause very low amounts of circulating serum albumin.; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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| Hyperthyroidism v0.3 | ALB | Zornitza Stark reviewed gene: ALB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Familial dysalbuminaemic hyperthyroxinaemia, [Dysalbuminemic hyperthyroxinemia], 615999; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.3 | ALB | Anna Le Fevre Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.3 | ALB |
Anna Le Fevre changed review comment from: Gain-of-function mechanism. Individuals with FDH-T4 or FDH-T3 present with altered thyroid function tests, but they are clinically euthyroid. Therefore, early identification of the syndromes is important to avoid unnecessary medical or surgical treatment. Both are dominantly inherited conditions caused by missense variants of ALB with increased affinity for thyroid hormones. The allelic condition Analbuminemia is a rare autosomal recessive disorder manifested by the presence of a very low amount of circulating serum albumin and is caused by biallelic loss of function variants.; to: Gain-of-function mechanism. Individuals with FDH-T4 or FDH-T3 present with altered thyroid function tests, but they are clinically euthyroid. Therefore, early identification of the syndromes is important to avoid unnecessary medical or surgical treatment. Both are dominantly inherited conditions caused by missense variants of ALB with increased affinity for thyroid hormones. The allelic condition Analbuminemia (ANALBUMINEMIA; ANALBA OMIM#616000) is a rare autosomal recessive disorder manifested by the presence of a very low amount of circulating serum albumin and is caused by biallelic loss of function variants. |
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| Hyperthyroidism v0.3 | ALB | Zornitza Stark Marked gene: ALB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.3 | ALB | Zornitza Stark Gene: alb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.3 | ALB | Zornitza Stark Publications for gene: ALB were set to 29163366; 24646103; 8064810; 27834068 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.2 | ALB | Zornitza Stark Mode of pathogenicity for gene: ALB was changed from to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.1 | ALB | Anna Le Fevre edited their review of gene: ALB: Changed publications: PMID: 29163366, 32635414 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.1 | ALB | Anna Le Fevre reviewed gene: ALB: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 29163366; Phenotypes: HYPERTHYROXINEMIA, FAMILIAL DYSALBUMINEMIC, FDAH (OMIM#615999); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.0 | ALB |
Zornitza Stark gene: ALB was added gene: ALB was added to Hyperthyroidism. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: ALB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ALB were set to 29163366; 24646103; 8064810; 27834068 Phenotypes for gene: ALB were set to Familial dysalbuminaemic hyperthyroxinaemia; [Dysalbuminemic hyperthyroxinemia], 615999 |
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