Genomics England
GMS Panels
Panels
Genes and Entities

THRA

thyroid hormone receptor, alpha
OMIM: 190120
PanelMode of inheritanceDetails
5 panels
Green
in Congenital hypothyroidism
R-numbers: R145
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 614450
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.122
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
Green
in Hyperthyroidism
R-numbers: R182
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6