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Monogenic hearing loss

Gene: THRB

Red List (low evidence)
THRB (thyroid hormone receptor beta)
EnsemblGeneIds (GRCh38): ENSG00000151090
EnsemblGeneIds (GRCh37): ENSG00000151090
OMIM: 190160, Gene2Phenotype
THRB is in 8 panels

1 review

Jun Shen (Harvard Medical School)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
#145650:Thyroid hormone resistance, selective pituitary[Hyperthyroidism; Selective pituitary insensitivity to thyroid hormone; Increased pituitary thyroid-stimulating hormone (TSH)]; #188570:Thyroid hormone resistance[Thyroid hormone resistance; Clinically euthyroid; Goiter; Delayed speech development; Childhood attention deficit/hyperactivity disorder; Markedly increased serum thyroid hormone levels; Normal or slightly increased serum thyrotropin (TSH); Normal response to administration of thyrotropin-releasing hormone (TRH) and L-triiodothyronine]; #274300:Thyroid hormone resistance, autosomal recessive[Congenital deafness; Stippled epiphyses; Goiter; End-organ unresponsiveness to thyroid hormone; Thyroid hormone receptor-beta gene (THR1) deletion; Clinical euthyroidism; Abnormally high PBI; Elevated blood thyroid hormones; Elevated thyrotropin; Normal response to thyrotropin-releasing hormone; Low birth weight for dates; Exophthalmos]

Publications

Created: 7 Feb 2016, 9:02 a.m.

Panel version: 0.105

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

THRB was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert