PanelApp
  1. Genes and Genomic Entities
  2. THRA

THRA

thyroid hormone receptor, alpha
OMIM: 190120, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Amber THRA in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.129

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • Hypothyroidism, congenital, nongoitrous, 6, MIM# 614450

    Green THRA in Mendeliome


    Version 1.3512

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hypothyroidism, congenital, nongoitrous, 6, MIM# 614450

    Green THRA in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Hypothyroidism congenital nongoitrous 6 (MIM 614450)

    Green THRA in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Hypothyroidism, congenital, nongoitrous, 6

    Green THRA in Red cell disorders


    Level 2: Haematological disorders
    Version 1.33

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Hypothyroidism, congenital, nongoitrous, 6, MIM# 614450

    Green THRA in Hyperthyroidism


    Level 2: Endocrine disorders
    Version 0.24

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Hypothyroidism, congenital, nongoitrous, 6 614450

    Green THRA in Congenital hypothyroidism

    Level 3: Thyroid disorders
    Level 2: Endocrine disorders
    Version 0.53

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Genomics England PanelApp
    • Expert Review Green
    Phenotypes
    • Congenital hypothyroidism or thyroid agenesis
    • delayed dentition
    • macrocephaly
    • Hypothyroidism, Congenital, Nongoitrous, 6, 614450
    • Hypothyroidism, congenital, nongoitrous, 6, 614450
    • neurodevelopmental delay
    • Resistance to thyroid hormone
    • constipation
    • skeletal dysplasia
    • growth retardation
    • macrocytic anaemia

    Green THRA in Fetal anomalies


    Version 1.465

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Hypothyroidism, congenital, nongoitrous, 6, MIM# 614450

    Green THRA in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    Phenotypes
    • Hypothyroidism, congenital, nongoitrous, 6, MIM# 614450
    Tags
    • treatable
    • endocrine