Hyperthyroidism

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

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

Green List (high evidence)

Phenotypes
Selenoprotein deficiency

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 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

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to expert reviews and further curation

15 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

15 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

15 Mar 2017, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

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

15 Mar 2017, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

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

14 Mar 2017, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

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;

14 Mar 2017, Gel status: 1

Upload gene information

Louise Daugherty (Genomics England Curator)

SECISBP2 was added to Resistance to thyroid hormonepanel. Sources: Eligibility statement prior genetic testing

16 Dec 2016, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

SECISBP2 was added to Resistance to thyroid hormonepanel. Source: Other

16 Dec 2016, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

SECISBP2 was added to Resistance to thyroid hormonepanel. Source: Radboud University Medical Center, Nijmegen

16 Dec 2016, Gel status: 0

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Model of inheritance for gene SECISBP2 was set to BIALLELIC, autosomal or pseudoautosomal

16 Dec 2016, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

SECISBP2 was created by LouiseD

16 Dec 2016, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

SECISBP2 was added to Resistance to thyroid hormonepanel. Sources: Literature