Genomics England
GMS Panels
Panels
Genes and Entities

SECISBP2

SECIS binding protein 2
OMIM: 607693
PanelMode of inheritanceDetails
4 panels
Green
in Congenital hypothyroidism
R-numbers: R145
Signed-off version 2.23
BIALLELIC, autosomal or pseudoautosomal
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
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.48
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
THYROID HORMONE METABOLISM, ABNORMAL 609698
Green
in Hyperthyroidism
R-numbers: R182
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
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
in Thoracic aortic aneurysm or dissection (GMS)
R-numbers: R125
Signed-off version 3.19
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Thyroid hormone metabolism, abnormal, 1, OMIM:609698, thoracic aortic aneurysm