This panel is used for clinical indication 'R110 Segmental overgrowth disorders', 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 'R110 Segmental overgrowth disorders'. The content of this panel (version 2.1: https://panelapp.genomicsengland.co.uk/api/v1/panels/98/?version=2.1 ) was signed off under NHS Genomic Medicine Service governance on (24/02/2020). 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 This panel is also a constituent panel of super panel 'Cerebral malformations'. Changes made to this panel will automatically be updated in the relevant super panel(s).
Ellen McDonagh (Genomics England Curator)
Group: Other
Workplace: Other
Richard Scott (North Thames GMC/UCL)
Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
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
Eleanor Williams (Genomics England Curator)
Group: Other
Workplace: Other
Catherine Snow (Genomics England)
Group: Other
Workplace: Other
| List | Entity | Reviews | Mode of inheritance | Details | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Green List (high evidence) |
AKT1 |
3 reviews1 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Green List (high evidence) |
AKT3 |
3 reviews1 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
CCND2 |
2 reviews1 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
CDKN1C |
3 reviews1 green |
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
PIK3CA |
2 reviews1 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
PIK3R2 |
2 reviews1 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
PTEN |
2 reviews1 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
RASA1 |
2 reviews1 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| Amber List (moderate evidence) |
AKT2 |
1 review |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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| Amber List (moderate evidence) |
NLRP2 |
1 review |
BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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| Amber List (moderate evidence) |
SUZ12 |
1 review1 green |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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| Red List (low evidence) |
HRAS |
0 reviews |
Not set |
Sources
Phenotypes
Tags |
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| Red List (low evidence) |
KRAS |
0 reviews |
Not set |
Sources
Phenotypes
Tags |
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| Red List (low evidence) |
MTOR |
1 review |
Not set |
Sources
Phenotypes
Tags |
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| Red List (low evidence) |
NRAS |
0 reviews |
Not set |
Sources
Phenotypes
Tags |
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| Red List (low evidence) |
PADI6 |
1 review |
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) |
Sources
Phenotypes
Tags |
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| Red List (low evidence) |
TBC1D7 |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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2019-12-12 16:31 Ivone Leong (Genomics England Curator) promoted panel to 2.0
The content of this panel (version 1.10) was signed off under NHS Genomic Medicine Service governance on (12/12/2019). The panel was promoted to the next major version (version 2.0) as a result of this.
28 November 2016: Reviews were assessed, and panel was revised according to expert review and additional curation.