Hyperthyroidism
Gene: SECISBP2

SECISBP2 (SECIS binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000187742
EnsemblGeneIds (GRCh37): ENSG00000187742
OMIM: 607693, Gene2Phenotype
SECISBP2 is in 6 panels

2 reviews

krishna chatterjee (Institute of Metabolic Science, University of Cambridge)

Green List (high evidence)

Phenotypes
Selenoprotein deficiency

Created: 11 Jul 2019, 12:43 p.m.
Last Modified: 11 Jul 2019, 12:43 p.m.
Panel version: 1.8

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

Created: 15 Mar 2017, 12:18 p.m.

Panel version: 0.15

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert list
Expert Review Green
Eligibility statement prior genetic testing
Other
Radboud University Medical Center, Nijmegen
Literature

Phenotypes

Abnormal thyroid hormone metabolism
Selenocysteine insertion sequence binding protein 2 (SBP2) defect
Thyroid hormone metabolism, abnormal, 609698
THYROID HORMONE METABOLISM, ABNORMAL
Short stature-delayed bone age due to thyroid hormone metabolism deficiency

OMIM

607693

Clinvar variants

Variants in SECISBP2

Penetrance

Complete

Publications

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

Panels with this gene

History Filter Activity

11 Jul 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source Expert list was added to SECISBP2.

15 Mar 2017, Gel status: 4