This panel is used for clinical indication 'R158 Lipodystrophy - childhood onset', 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 'R158 Lipodystrophy - childhood onset'. The content of this panel is overseen by NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects of the assay(s) available. 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 initially created from the green genes on the Insulin resistance (including lipodystrophy) panel (code 174) (Version 1.4), that included lipodystrophy in their associated phenotypes. The content of this panel (version 2.0: https://panelapp.genomicsengland.co.uk/api/v1/panels/546/?version=2.0) was signed off under NHS Genomic Medicine Service governance on (31/07/2019). This panel will continue to be curated. 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 for the GMS panels.
Ellen McDonagh (Genomics England Curator)
Group: other
Workplace: other
Robert Semple (University of Cambridge)
Group: GeCIP domain
Workplace: Research lab
David Savage (IMS MRL, Uni. Cambridge)
Group: GeCIP domain
Workplace: Research lab
Sarah Leigh (Genomics England Curator)
Group: Other
Workplace: Other
Kevin Colclough (Royal Devon & Exeter NHS Healthcare Trust)
Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Louise Daugherty (Genomics England Curator)
Group: Other
Workplace: Other
Anna de Burca (Genomics England Curator)
Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Ivone Leong (Genomics England Curator)
Group: Other
Workplace: Other
| List | Entity | Reviews | Mode of inheritance | Details | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Green List (high evidence) |
AGPAT2 |
4 reviews2 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
BSCL2 |
4 reviews2 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
CAV1 |
2 reviews |
BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
CAVIN1 |
5 reviews2 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
LIPE |
1 review |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
LMNA |
4 reviews1 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
PLIN1 |
6 reviews3 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
POLD1 |
4 reviews2 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
PPARG |
4 reviews2 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
ZMPSTE24 |
4 reviews2 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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| Red List (low evidence) |
ADRA2A |
1 review |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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| Red List (low evidence) |
AKT2 |
3 reviews1 green |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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| Red List (low evidence) |
CIDEC |
4 reviews2 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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2019-07-31 14:52 Ivone Leong (Genomics England Curator) promoted panel to 2.0
The content of this panel (version 1.7) 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.
2019-01-08 15:30 Ellen McDonagh (Genomics England Curator) promoted panel to 1.0
Based upon the Insulin resistance (including lipodystrophy) panel (code 174,(Version 1.4), with reviews transferred accross. The panel then underwent additional curation and review from Kevin Colclough (Royal Devon & Exeter Hospital). The final version was approved by Kevin Colclough (Royal Devon & Exeter Hospital), ready to promote to version 1.