| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hyperthyroidism v0.10 | SECISBP2 | Zornitza Stark Marked gene: SECISBP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.10 | SECISBP2 | Zornitza Stark Gene: secisbp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.10 | SECISBP2 | Zornitza Stark Phenotypes for gene: SECISBP2 were changed from Selenocysteine insertion sequence binding protein 2 (SBP2) defect; Thyroid hormone metabolism, abnormal, 609698; Short stature-delayed bone age due to thyroid hormone metabolism deficiency; THYROID HORMONE METABOLISM, ABNORMAL; Abnormal thyroid hormone metabolism to Thyroid hormone metabolism, abnormal, MIM# 609698 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.9 | SECISBP2 | Zornitza Stark Publications for gene: SECISBP2 were set to 22986150; 24629861; 19602558; 22247018; 20501692; 16228000; Diversity Selenium Functions in Health and Disease, Edited by Regina Brigelius-Flohe and Helmut Sies, Chapter 16. Mutations in SECISBP2. Erik Schoenmakers, Carla Moran, Nadia Schoenmakers and Krishna Chatterjee. CRC Press 2015. Pages 343 376. Print ISBN: 978-1-4822-5126-5. eBook ISBN: 978-1-4822-5127-2. DOI: 10.1201/b18810-23; 21084748 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.8 | SECISBP2 | Anna Le Fevre reviewed gene: SECISBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16228000, 19602558, 21084748, 22247018; Phenotypes: #609698 THYROID HORMONE METABOLISM, ABNORMAL; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperthyroidism v0.0 | SECISBP2 |
Zornitza Stark gene: SECISBP2 was added gene: SECISBP2 was added to Hyperthyroidism. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: SECISBP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SECISBP2 were set to 22986150; 24629861; 19602558; 22247018; 20501692; 16228000; Diversity Selenium Functions in Health and Disease, Edited by Regina Brigelius-Flohe and Helmut Sies, Chapter 16. Mutations in SECISBP2. Erik Schoenmakers, Carla Moran, Nadia Schoenmakers and Krishna Chatterjee. CRC Press 2015. Pages 343 376. Print ISBN: 978-1-4822-5126-5. eBook ISBN: 978-1-4822-5127-2. DOI: 10.1201/b18810-23; 21084748 Phenotypes for gene: SECISBP2 were set to Selenocysteine insertion sequence binding protein 2 (SBP2) defect; Thyroid hormone metabolism, abnormal, 609698; Short stature-delayed bone age due to thyroid hormone metabolism deficiency; THYROID HORMONE METABOLISM, ABNORMAL; Abnormal thyroid hormone metabolism |
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