Congenital hypothyroidism

Gene: SECISBP2

Green List (high evidence)

SECISBP2 (SECIS binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000187742
EnsemblGeneIds (GRCh37): ENSG00000187742
OMIM: 607693, Gene2Phenotype
SECISBP2 is in 5 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

To expand the scope of the Congenital hypothyroidism panel, this gene was added and the version changed to 1.8. This gene and information originates from the Hyperthyroidism panel (Version 1.6, code 236). This addition was approved by the Genomics England Clinical Team.
Created: 19 Dec 2018, 1:18 p.m.

Louise Daugherty (Genomics England Curator)

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 panel
Created: 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 curation
Created: 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 review
Created: 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Short stature-delayed bone age due to thyroid hormone metabolism deficiency
  • Selenocysteine insertion sequence binding protein 2 (SBP2) defect
  • Abnormal thyroid hormone metabolism
  • Thyroid hormone metabolism, abnormal, 609698
  • THYROID HORMONE METABOLISM, ABNORMAL
OMIM
607693
Clinvar variants
Variants in SECISBP2
Penetrance
None
Publications
  • 24629861
  • 22986150
  • 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
  • 20501692
  • 19602558
  • 22247018
  • 16228000
  • 21084748
Panels with this gene

History Filter Activity

19 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: SECISBP2 was added gene: SECISBP2 was added to Congenital hypothyroidism. Sources: Expert Review Green Mode of inheritance for gene: SECISBP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SECISBP2 were set to 24629861; 22986150; 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; 20501692; 19602558; 22247018; 16228000; 21084748 Phenotypes for gene: SECISBP2 were set to Short stature-delayed bone age due to thyroid hormone metabolism deficiency; Selenocysteine insertion sequence binding protein 2 (SBP2) defect; Abnormal thyroid hormone metabolism; Thyroid hormone metabolism, abnormal, 609698; THYROID HORMONE METABOLISM, ABNORMAL