SECISBP2

SECIS binding protein 2
OMIM: 607693, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green SECISBP2 in Hyperthyroidism

Level 3: Thyroid disorders
Level 2: Endocrine disorders
Version 2.13
Latest signed off version: v2.2 (19 Feb 2020)

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

Amber SECISBP2 in Fetal anomalies


Version 1.905
Latest signed off version: v1.92 (21 Aug 2020)

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

Amber SECISBP2 in DDG2P


Version 2.78
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • THYROID HORMONE METABOLISM, ABNORMAL 609698

    Red SECISBP2 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.117
    Latest signed off version: v2.4 (17 Feb 2020)

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review Not set
    Sources
    • Expert list

    Green SECISBP2 in Congenital hypothyroidism

    Level 3: Thyroid disorders
    Level 2: Endocrine disorders
    Version 2.11
    Latest signed off version: v2.2 (25 Feb 2020)

    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