THRA

thyroid hormone receptor, alpha
OMIM: 190120
PanelMode of inheritanceDetails
5 panels
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 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 614450
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
R-numbers: R182
Signed-off version 2.2
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
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6