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Intellectual_disability

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

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Details

Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Thyroid hormone resistance, 188570Thyroid hormone resistance, autosomal recessive, 274300Thyroid hormone resistance, selective pituitary, 145650
OMIM
190160
Clinvar variants
Variants in THRB
Penetrance
Complete
Panels with this gene

History Filter Activity

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

THRB was added to Intellectual_disabilitypanel. Sources: Radboud University Medical Center, Nijmegen