Hyperthyroidism
Gene: SECISBP2
Phenotypes
Selenoprotein deficiency
Report variants in this gene as part of diagnostic practice : Metabolic Research Laboratories, Institute of Metabolic Science, University of Cambridge (From expert review Krishna Chatterjee and Carla Moran)Created: 15 Mar 2017, 4:48 p.m.
Comment on publications: added book reference from recommendation via Krishna Chatterjee and Carla Moran - this is is a recent relevant chapter on SECISBP2 written by the reviewers for the panelCreated: 15 Mar 2017, 4:47 p.m.
Comment when marking as ready: gene has been assessed for involvement in Resistance to thyroid hormone according to expert reviews and further curationCreated: 15 Mar 2017, 3:47 p.m.
Comment on list classification: Changed status from Red to Green due to new evidence in the literature and expert reviewCreated: 15 Mar 2017, 12:26 p.m.
Comment on publications: To date nine unrelated families (11 affected individuals) with either compound heterozygous or homozygous SECISBP2 defects and selenoprotein deficiency have been described PMID: 2462986, 22986150, 22247018, 21084748; 20501692, 19602558, 16228000.Created: 15 Mar 2017, 12:16 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Source Expert list was added to SECISBP2.
Panel reviews were assessed, and panel was revised according to expert reviews and further curation
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for SECISBP2 were set to 24629861;22986150;22247018;21084748; 20501692;19602558;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
Publications for SECISBP2 were set to 24629861;22986150;22247018;21084748; 20501692;19602558;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
Publications for SECISBP2 were set to 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;
SECISBP2 was added to Resistance to thyroid hormonepanel. Sources: Eligibility statement prior genetic testing
SECISBP2 was added to Resistance to thyroid hormonepanel. Source: Other
SECISBP2 was added to Resistance to thyroid hormonepanel. Source: Radboud University Medical Center, Nijmegen
Model of inheritance for gene SECISBP2 was set to BIALLELIC, autosomal or pseudoautosomal
SECISBP2 was created by LouiseD
SECISBP2 was added to Resistance to thyroid hormonepanel. Sources: Literature