PanelApp
  1. Genes and Genomic Entities
  2. SECISBP2

SECISBP2

SECIS binding protein 2
OMIM: 607693, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green SECISBP2 in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 1.101

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Thyroid hormone metabolism, abnormal, 1 MIM#609698
  • Selenoprotein deficiency

Green SECISBP2 in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Thyroid hormone metabolism, abnormal, MIM# 609698

Green SECISBP2 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.309

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Thyroid hormone metabolism, abnormal, 1, MIM# 609698

    Green SECISBP2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.508

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Thyroid hormone metabolism, abnormal, 1, MIM# 609698

    Green SECISBP2 in Hyperthyroidism


    Level 2: Endocrine disorders
    Version 0.24

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Thyroid hormone metabolism, abnormal, MIM# 609698

    Green SECISBP2 in Metal Metabolism Disorders


    Level 2: Metabolic disorders
    Version 0.52

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • thyroid hormone metabolism, abnormal 1 MONDO:0800046
    • Other disorders of trace element metabolism

    Green SECISBP2 in Congenital hypothyroidism

    Level 3: Thyroid disorders
    Level 2: Endocrine disorders
    Version 0.77

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Thyroid hormone metabolism, abnormal, MIM# 609698

    Red SECISBP2 in Fetal anomalies


    Version 1.482

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    • Literature
    Phenotypes
    • Thyroid hormone metabolism, abnormal, MIM# 609698