SECISBP2

SECIS binding protein 2
OMIM: 607693, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green SECISBP2 in Hyperthyroidism


Level 2: Endocrinology
Version 3.5
Latest signed off version: v3.0 (30 Nov 2022)

review 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
Green SECISBP2 in Thoracic aortic aneurysm or dissection (GMS)


Level 2: Cardiology
Version 4.5
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Thyroid hormone metabolism, abnormal, 1, OMIM:609698
  • thoracic aortic aneurysm
Amber SECISBP2 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.138
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • THYROID HORMONE METABOLISM, ABNORMAL
Green SECISBP2 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • THYROID HORMONE METABOLISM, ABNORMAL 609698
    Red SECISBP2 in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 9.41
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review Not set
    Sources
    • Expert list
    Green SECISBP2 in Congenital hypothyroidism


    Level 2: Endocrinology
    Version 3.3
    Latest signed off version: v3.0 (30 Apr 2025)

    review 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