SECISBP2

Green SECISBP2 in Hyperthyroidism

Level 3: Thyroid disorders
Level 2: Endocrine disorders
Version 3.4
Latest signed off version: v3.0 (30 Nov 2022)

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 Thoracic aortic aneurysm or dissection (GMS)

Version 3.11
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Amber
• Literature

Phenotypes

• Thyroid hormone metabolism, abnormal, 1, OMIM:609698
• thoracic aortic aneurysm

Tags

• Q2_24_promote_green
• Q2_24_NHS_review

Amber SECISBP2 in Fetal anomalies

Version 4.1
Latest signed off version: v4.0 (1 May 2024)

Sources

• Expert Review Amber
• PAGE DD-Gene2Phenotype

Phenotypes

• THYROID HORMONE METABOLISM, ABNORMAL

Green SECISBP2 in DDG2P

Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Green
• DD-Gene2Phenotype

Phenotypes

• THYROID HORMONE METABOLISM, ABNORMAL 609698

Red SECISBP2 in Mitochondrial disorders

Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 6.4
Latest signed off version: v6.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert list

Green SECISBP2 in Congenital hypothyroidism

Level 3: Thyroid disorders
Level 2: Endocrine disorders
Version 2.18
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