This panel is used for clinical indication 'R144 Congenital hyperinsulinism', 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 'R144 Congenital hyperinsulinism'. The content of this panel (version 2.3: https://panelapp.genomicsengland.co.uk/api/v1/panels/308/?version=2.3) was signed off under NHS Genomic Medicine Service governance on (25/02/2019). 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 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
Ellen McDonagh (Genomics England Curator)
Group: other
Workplace: other
Sian Ellard (University of Exeter Medical School)
Group: other
Workplace: other
Ellen Thomas (Genomics England Curator)
Group: Other
Workplace: Other
Sarah Leigh (Genomics England Curator)
Group: Other
Workplace: Other
Zornitza Stark (Australian Genomics)
Group: Other
Workplace: Other clinical service
Anna de Burca (Genomics England Curator)
Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Ivone Leong (Genomics England Curator)
Group: Other
Workplace: Other
Jayne Houghton (Royal Devon and Exeter Foundation Trust)
Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
| List | Entity | Reviews | Mode of inheritance | Details | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Green List (high evidence) |
ABCC8 |
2 reviews2 green |
BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
AKT2 |
3 reviews2 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
FOXA2 |
2 reviews2 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
GCK |
3 reviews2 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
GLUD1 |
3 reviews2 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
GPC3 |
3 reviews2 green 1 red |
X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
HADH |
2 reviews2 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
HNF1A |
4 reviews2 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
HNF4A |
4 reviews2 green |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
INSR |
4 reviews2 green 1 red |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
KCNJ11 |
3 reviews2 green |
BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
KDM6A |
2 reviews2 green |
X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
KMT2D |
2 reviews2 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
PMM2 |
2 reviews2 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
SLC16A1 |
3 reviews2 green |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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| Red List (low evidence) |
CACNA1D |
2 reviews1 red |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| Red List (low evidence) |
MAFA |
2 reviews1 green 1 red |
Not set |
Sources
Tags |
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| Red List (low evidence) |
RYR3 |
3 reviews |
Not set |
Sources
Phenotypes
Tags |
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| Red List (low evidence) |
TRMT10A |
4 reviews1 green 2 red |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Tags |
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| No list |
NSD1 |
1 review1 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| No list |
UCP2 |
1 review |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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2019-07-31 13:49 Ivone Leong (Genomics England Curator) promoted panel to 2.0
The content of this panel (version 1.39) 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.
Several probable disease genes which haven't quite got enough evidence to meet the criteria for green. Panel ready on the basis of current available evidence.