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Severe Paediatric Disorders

Gene: THRB

Green List (high evidence)

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: THRB; Recommended initial gene rating: Green List (high evidence); Phenotypes: Thyroid hormone resistance, 188570 (3) | Thyroid hormone resistance, autosomal recessive, 274300 (3) | Thyroid hormone resistance, selective pituitary, 145650 (3); Mode of inheritance: Autosomal dominant | Autosomal recessive | Autosomal dominant
Created: 20 Feb 2020, 5:26 p.m. | Last Modified: 20 Feb 2020, 5:26 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
Phenotypes
  • Thyroid hormone resistance, selective pituitary, 145650
  • Thyroid hormone resistance, 188570
  • Thyroid hormone resistance, autosomal recessive, 274300
OMIM
190160
Clinvar variants
Variants in THRB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene THRB were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Thyroid hormone resistance, selective pituitary, 145650; Thyroid hormone resistance, 188570; Thyroid hormone resistance, autosomal recessive, 274300 for gene: THRB

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Thyroid hormone resistance, selective pituitary, 145650; Thyroid hormone resistance, 188570; Thyroid hormone resistance, autosomal recessive, 274300 for gene: THRB

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Thyroid hormone resistance, selective pituitary, 145650; Thyroid hormone resistance, 188570; Thyroid hormone resistance, autosomal recessive, 274300 for gene: THRB

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Thyroid hormone resistance, autosomal recessive, 274300; Thyroid hormone resistance, 188570; Thyroid hormone resistance, selective pituitary, 145650 for gene: THRB

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene THRB was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Thyroid hormone resistance, selective pituitary, 145650; Thyroid hormone resistance, 188570; Thyroid hormone resistance, autosomal recessive, 274300 for gene: THRB

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to THRB.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to THRB. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: THRB was added gene: THRB was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: THRB was set to