This panel is a component of super panel 'Cerebral malformations' (panel id 491); it is not directly used for analysis in the NHS Genomic Medicine Service outside that context. Changes made to this panel will automatically be updated in the relevant super panel(s). 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. This panel was originally developed as part of the ‘Segmental overgrowth disorders’ panel (https://panelapp.genomicsengland.co.uk/panels/98/) 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
Richard Scott (North Thames GMC/UCL)
Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
James Poulter (University of Leeds)
Group: Other
Workplace: Research lab
Rebecca Foulger (Genomics England curator)
Group: Other
Workplace: Other
Eleanor Williams (Genomics England Curator)
Group: Other
Workplace: Other
Achchuthan Shanmugasundram (Genomics England Curator)
Group: Other
Workplace: Other
| List | Entity | Reviews | Mode of inheritance | Details | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Green List (high evidence) |
AKT1 |
3 reviews1 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| 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) |
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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| Amber List (moderate evidence) |
MAX |
2 reviews2 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| Red List (low evidence) |
AKT2 |
0 reviews |
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) |
TBC1D7 |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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2022-11-30 13:59 Achchuthan Shanmugasundram (Genomics England Curator) promoted panel to 2.0
There have been no changes to green entities on this panel but it is being promoted to the next major version because it is a component of a super panel that is to be re-signed off for the NHS Genomic Medicine Service. The panel was promoted to the next major version (2.0).
2019-12-11 15:55 Louise Daugherty (Genomics England Curator) promoted panel to 1.0
The content of this panel (version 0.5) was signed off under NHS Genomic Medicine Service governance on (11/12/2019). The panel was promoted to the next major version (version 1.0) as a result of this.