SECISBP2

Green SECISBP2 in Hyperthyroidism

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

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)

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:

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:

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)

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