THRA

thyroid hormone receptor, alpha
OMIM: 190120, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green THRA 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 list
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Other
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • RTH alpha
  • congenital nongoitrous hypothyroidism 6
  • Resistance to thyroid hormone alpha
  • Resistance to Thyroid Hormone due to defective thyroid receptor alpha (RTHa)
  • Hypothyroidism, congenital, nongoitrous, 6, 614450
  • HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
  • CHNG6
Tags
  • treatable

Red THRA in Autism


Version 0.22

review Not set
Sources
  • Expert Review Red
  • SFARI

Green THRA in Fetal anomalies


Version 1.728
Latest signed off version: v1.92 (21 Aug 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6

Green THRA in DDG2P


Version 2.49
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 614450

    Red THRA in Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.199
    Latest signed off version: v2.5 (13 Feb 2020)

    review Not set
    Sources
    • Expert

    Green THRA in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1367
    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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6

    Green THRA in Congenital hypothyroidism

    Level 3: Thyroid disorders
    Level 2: Endocrine disorders
    Version 2.5
    Latest signed off version: v2.2 (25 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Congenital hypothyroidism or thyroid agenesis
    • Hypothyroidism, Congenital, Nongoitrous, 6, 614450
    • Hypothyroidism, congenital, nongoitrous, 6, 614450
    • Resistance to thyroid hormone
    • skeletal dysplasia
    • growth retardation
    • macrocephaly
    • neurodevelopmental delay
    • constipation
    • delayed dentition
    • macrocytic anaemia
    Tags
    • treatable

    Green THRA in Severe Paediatric Disorders


    Version 1.84

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hypothyroidism, congenital, nongoitrous, 6, 614450