1. Genes and Genomic Entities
  2. TSHR

TSHR

thyroid stimulating hormone receptor
OMIM: 603372, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green TSHR in Hyperthyroidism

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

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Congenital, nonautoimmune hyperthyroidism
  • Hyperthyroidism, nonautoimmune, 609152
Red TSHR in Fetal anomalies


Version 3.155
Latest signed off version: v3.0 (22 Mar 2023)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
  • HYPERTHYROIDISM, FAMILIAL GESTATIONAL
Green TSHR in DDG2P


Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • HYPERTHYROIDISM, FAMILIAL GESTATIONAL 603373
    • HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 275200
    Red TSHR in Monogenic hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 4.38
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review Not set
    Sources
    • Expert
    Red TSHR in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Hypothyroidism, congenital, nongoitrous, 1 275200
    • Thyroid
    • adenoma, hyperfunctioning, somatic
    • Hyperthyroidism, nonautoimmune, 609152
    • Thyroid carcinoma with thyrotoxicosis
    • Hyperthyroidism, familial
    • gestational, 603373
    Green TSHR in Congenital hypothyroidism

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

    		review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Eligibility statement prior genetic testing
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Congenital hypothyroidism
    • Hypothyroidism, Congenital, Nongoitrous, 1, 275200
    • Hypothyroidism, congenital, nongoitrous, 1 275200
    • TSH resistance
    • thyroid hypoplasia
    • subclinical hypothyroidism
    • thyroid dysgenesis
    • eutopic gland-in-situ
    • compensated hypothryoidism
    Green TSHR in Severe Paediatric Disorders


    Version 1.184

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hyperthyroidism, nonautoimmune, 609152
    • Hyperthyroidism, familial gestational, 603373
    • Hypothyroidism, congenital, nongoitrous, 1, 275200