This panel is NO LONGER ACTIVELY MAINTAINED. Please use with caution, as the gene list has not been recently updated. Reviews added to this panel are no longer a priority for curation and may not be followed up. ----- This panel lists health related additional finding genes applicable to adults AND children 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 only (panel #931). For further information about additional findings see https://www.genomicsengland.co.uk/information-for-participants/findings/.
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4 Entitiess
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APC |
0 reviews |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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LDLR |
0 reviews |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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MEN1 |
0 reviews |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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VHL |
0 reviews |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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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