This panel lists health related additional finding genes applicable to adults only, in which overlapping copy number variants (CNV) will be looked for. Only genes where the mode of pathogenicity is expected to be by loss of function are included on this panel. This panel is a component of a superpanel which lists all additional findings genes for CNV analysis genes applicable to adults (panel #934). There is another panel for additional finding CNV analysis genes applicable to adults AND children (panel #932). For further information about additional findings see https://www.genomicsengland.co.uk/information-for-participants/findings/.
| List | Entity | Reviews | Mode of inheritance | Details | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Green List (high evidence) |
BRCA1 |
0 reviews |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
BRCA2 |
0 reviews |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
MLH1 |
0 reviews |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
MSH2 |
0 reviews |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
MSH6 |
0 reviews |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
MUTYH |
0 reviews |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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2021-04-07 10:24 Eleanor Williams (Genomics England Curator) promoted panel to 1.0
Panel content including transcript values checked and then promoted to version 1.0