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Osteogenesis imperfecta

Gene: THRB

No list

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

2 reviews

Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)

Red List (low evidence)

Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

Red List (low evidence)

Remove from panel
Created: 27 Nov 2015, 3:05 p.m.

Details

Sources
  • Expert Review Removed
  • Emory Genetics Laboratory
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
OMIM
190160
Clinvar variants
Variants in THRB
Penetrance
Complete
Panels with this gene

History Filter Activity

16 May 2016, Gel status: 0

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been removed from the panel.

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

THRB was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory