This panel is used for clinical indication 'R145 Congenital hypothyroidism', 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 'R145 Congenital hypothyroidism'. 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 based on external reviews and Genomics England curation. 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. 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 19th Dec 2018: additional Green genes from the Hyperthyroidism gene panel (Version 1.6, code 1.6) were added to this panel: SECISBP2, SLC16A2, THRB.
Ellen McDonagh (Genomics England Curator)
Group: Other
Workplace: Other
Sarah Leigh (Genomics England Curator)
Group: Other
Workplace: Other
Rebecca Foulger (Genomics England curator)
Group: Other
Workplace: Other
Louise Daugherty (Genomics England Curator)
Group: Other
Workplace: Other
Nadia Schoenmakers (University of Cambridge)
Group: GeCIP domain
Workplace: Research lab
Eleanor Williams (Genomics England Curator)
Group: Other
Workplace: Other
Zornitza Stark (Australian Genomics)
Group: Other
Workplace: Other clinical service
Ivone Leong (Genomics England Curator)
Group: Other
Workplace: Other
Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)
Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Arina Puzriakova (Genomics England Curator)
Group: Other
Workplace: Other
List | Entity | Reviews | Mode of inheritance | Details | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Green List (high evidence) |
DUOX2 |
2 reviews1 green |
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
DUOXA2 |
2 reviews1 green |
BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
FOXE1 |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
GLIS3 |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
GNAS |
2 reviews |
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
HESX1 |
2 reviews1 green |
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
IGSF1 |
2 reviews1 green |
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
IRS4 |
2 reviews1 green |
X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
IYD |
3 reviews1 green |
BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
LHX3 |
2 reviews |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
LHX4 |
2 reviews1 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
NKX2-1 |
2 reviews1 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
OTX2 |
3 reviews1 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
PAX8 |
2 reviews1 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
POU1F1 |
2 reviews1 green |
BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
PRKAR1A |
2 reviews1 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
PROP1 |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
SECISBP2 |
2 reviews |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
SLC16A2 |
2 reviews |
X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
SLC26A4 |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
SLC26A7 |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
SLC5A5 |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
TBL1X |
4 reviews2 green |
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
TG |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
THRA |
4 reviews1 red |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
THRB |
2 reviews |
BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
TPO |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
TRHR |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
TSHB |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
TSHR |
2 reviews1 green |
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Amber List (moderate evidence) |
CDCA8 |
2 reviews |
BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Amber List (moderate evidence) |
15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) LossISCA-37404-LossRegion |
2 reviews |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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Amber List (moderate evidence) |
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) LossISCA-37478-LossRegion |
1 review |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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Amber List (moderate evidence) |
NKX2-5 |
2 reviews1 red |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Amber List (moderate evidence) |
TUBB1 |
2 reviews |
BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
POLR2C |
2 reviews |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
SOX3 |
2 reviews1 green |
X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
Tags |
2019-07-31 13:52 Ivone Leong (Genomics England Curator) promoted panel to 2.0
The content of this panel (version 1.27) 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.
22 February 2017: Promoted to Version 1. Reviews were assessed, and panel was revised according to expert review and additional curation. After discussion with the reviewer and in-house clinicians, it was agreed to include the genes for 'combined pituitary hormone deficiency' (CPHD) on the panel, since patients can present with central hypothyroidism (CH). In these cases, CH does not occur in isolation, but is one of the evolving pituitary hormone deficiencies.