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 2.8
Latest signed off version: v2.2 (19 Feb 2020)

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 1.749
Latest signed off version: v1.92 (21 Aug 2020)

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 2.50
Latest signed off version: v2.2 (13 Feb 2020)

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 Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.206
    Latest signed off version: v2.5 (13 Feb 2020)

    review Not set
    Sources
    • Expert

    Red TSHR in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1396
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 2.5
    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 1.84

    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