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'.

The content of this panel is overseen by the NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects regarding the assay(s) available.

If this panel is not being delivered by WGS, CNVs and STRs may not be routinely included in the analysis. Please contact your local 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

2 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

5 Entities

5 reviewed, 4 green

List Entity Reviews Mode of inheritance Details
5 Entitiess
Green Green List (high evidence)
SECISBP2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • 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 Green List (high evidence)
SLC16A2
2 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Literature
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Monocarboxylate transporter 8 (MCT8) defect
  • Allan-Herndon-Dudley syndrome
  • Allan_Herndon_Dudley Syndrome
  • AHDS
  • 300523
  • Allan-Herndon-Dudley syndrome, 300523
  • Allan-Herndon-Dudley Syndrome
  • ALLAN-HERNDON-DUDLEY SYNDROME
  • ALLAN-HERNDON SYNDROME
  • MONOCARBOXYLATE TRANSPORTER 8 DEFICIENCY
  • TRIIODOTHYRONINE RESISTANCE
  • T3 RESISTANCE
  • MENTAL RETARDATION, X-LINKED, WITH HYPOTONIA
  • MENTAL RETARDATION AND MUSCULAR ATROPHY
  • mental retardation, X-linked, with hypotonia
  • MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency
  • monocarboxylate transporter 8 (MCT8) deficiency
Tags
  • treatable
Green Green List (high evidence)
THRA
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • 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 Green List (high evidence)
THRB
2 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • 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
Red Red List (low evidence)
TRU-TCA1-1
1 review
1 red
Unknown
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Red
  • Expert list
Tags
  • locus-type-rna-transfer

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