1. Genes and Genomic Entities
  2. TSHB

TSHB

thyroid stimulating hormone beta
OMIM: 188540, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Red TSHB in Fetal anomalies


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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4
Green TSHB in DDG2P


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

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4 275100
    Green TSHB in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.13
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4
    Green TSHB in Congenital hypothyroidism

    Level 3: Thyroid disorders
    Level 2: Endocrine disorders
    Version 2.18
    Latest signed off version: v2.2 (25 Feb 2020)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Congenital hypothyroidism
    • Hypothryoidism, congenital, nongoitrous 4, 275100
    • severe isolated central hypothyroidism
    Green TSHB in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hypothyroidism, congenital, nongoitrous 4, 275100