THRA

thyroid hormone receptor, alpha
OMIM: 190120, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green THRA in Mendeliome Version 1.2302	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 1.63	1 review	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 Hyperthyroidism Level 2: Endocrine disorders Version 0.23	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 0.43	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 1.313	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 BabyScreen+ newborn screening Level 2: Screening Version 1.116	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