1. Panels
  2. Hyperthyroidism
The latest signed off version for the GMS is v3.0. The current version, shown here, may differ from the signed-off version.

Hyperthyroidism (Version 3.5)

Level 2: Endocrinology

Relevant disorders: Resistance to thyroid hormone, R182
Panel types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Latest signed off version: v3.0 (30 Nov 2022)
Previously signed off versions: v2.2
Previous code: 576cd44c8f6203609632be80
Description
This panel is used for clinical indication 'R182 Hyperthyroidism', and can also be applied as a virtual panel in the analysis of genome or exome data in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/)  under 'R182 Hyperthyroidism'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This panel will continue to be curated. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process for the GMS panels. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K
Panel Activity

7 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • krishna chatterjee (Institute of Metabolic Science, University of Cambridge)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

  • david halsall (Cambridge University Hospitals Trust)

    Group: Other NHS organisation
    Workplace: NHS diagnostic lab

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

8 Entities

8 reviewed, 7 green

List Entity Reviews Mode of inheritance Details
8 Entitiess
Green List (high evidence)
ALB
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Familial dysalbuminaemic hyperthyroxinaemia
  • [Dysalbuminemic hyperthyroxinemia], OMIM:615999
  • ?[Dysalbuminemic hypertriiodothyroninemia], OMIM:615999
Tags
Green List (high evidence)
SECISBP2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
  • Literature
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Abnormal thyroid hormone metabolism
  • Selenocysteine insertion sequence binding protein 2 (SBP2) defect
  • Thyroid hormone metabolism, abnormal, 609698
  • THYROID HORMONE METABOLISM, ABNORMAL
  • Short stature-delayed bone age due to thyroid hormone metabolism deficiency
Tags
Green List (high evidence)
SLC16A2
3 reviews
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Literature
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Allan-Herndon-Dudley syndrome, OMIM:300523
Tags
  • treatable
Green List (high evidence)
THRA
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
  • Literature
  • Other
  • Radboud University Medical Center, Nijmegen
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
Tags
  • treatable
Green List (high evidence)
THRB
3 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Resistance to thyroid hormone (RTH)
  • thyroid hormone unresponsiveness, generalized RTH, RTH beta
  • Refetoff syndrome
  • Thyroid Hormone Resistance, Selective Pituitary
  • PRTH
  • 145650
  • Thyroid hormone resistance, 188570
  • Thyroid hormone resistance, autosomal recessive, 274300
  • Thyroid hormone resistance, selective pituitary, 145650
  • Thyroid Hormone Resistance (monoallelic)
  • THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
  • GRTH
  • THYROID HORMONE UNRESPONSIVENESS HYPERTHYROXINEMIA, FAMILIAL EUTHYROID, SECONDARY TO PITUITARY AND PERIPHERAL RESISTANCE TO THYROID HORMONES
  • THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE
  • THYROID HORMONE UNRESPONSIVENESS
  • REFETOFF SYNDROME
  • THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY
  • HYPERTHYROIDISM, FAMILIAL, DUE TO INAPPROPRIATE THYROTROPIN SECRETION
Tags
  • treatable
Green List (high evidence)
TSHR
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Congenital, nonautoimmune hyperthyroidism
  • Hyperthyroidism, nonautoimmune, 609152
Tags
Green List (high evidence)
TTR
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • [Dystransthyretinemic hyperthyroxinemia], 145680
  • DTTRH
Tags
Red List (low evidence)
TRU-TCA1-1
2 reviews
1 red 		Unknown
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Red
Tags
  • ensembl_ids_known_missing
  • locus-type-rna-transfer

Major version comments

  • 2022-11-30 14:25 Eleanor Williams (Genomics England Curator) promoted panel to 3.0
    The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0) following this.

    2019-07-31 15:03 Ivone Leong (Genomics England Curator) promoted panel to 2.0
    The content of this panel (version 1.8) was signed off under NHS Genomic Medicine Service governance on (31/07/2019). The panel was promoted to the next major version (version 2.0) as a result of this.

    Panel reviews were assessed, and panel was revised according to expert reviews and further curation

Downloads

Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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