Additional findings health related - CNV analysis adults (Version 2.4)

Description

This super panel lists all the health related additional finding genes for adults in which overlapping copy number variants (CNV) will be looked for. 

For further information about additional findings see https://www.genomicsengland.co.uk/information-for-participants/findings/.

10 Entities

0 reviewed, 10 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 10 Entitiess
Green List (high evidence)	APC Additional findings health related - CNV analysis children v1.1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Familial Adenomatous Polyposis Adult and child Bowel cancer predisposition Tags
Green List (high evidence)	BRCA1 Additional findings health related - CNV analysis adult specific v1.3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes {Breast-ovarian cancer, familial, 1}, OMIM:604370 Adult only Tags adult-onset
Green List (high evidence)	BRCA2 Additional findings health related - CNV analysis adult specific v1.3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes {Breast-ovarian cancer, familial, 2}, OMIM:612555 {Breast cancer, male, susceptibility to}, OMIM:114480 Adult only Tags adult-onset
Green List (high evidence)	LDLR Additional findings health related - CNV analysis children v1.1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Familial hypercholesterolaemia Adult and child Tags
Green List (high evidence)	MEN1 Additional findings health related - CNV analysis children v1.1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Myltiple endocrine Neoplasia Type 1 Other cancer predisposition Adult and child Tags
Green List (high evidence)	MLH1 Additional findings health related - CNV analysis adult specific v1.3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Bowel cancer predisposition Adult only Hereditary non-polyposis colorectal cancer Tags adult-onset
Green List (high evidence)	MSH2 Additional findings health related - CNV analysis adult specific v1.3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Bowel cancer predisposition Adult only Hereditary non-polyposis colorectal cancer Tags adult-onset
Green List (high evidence)	MSH6 Additional findings health related - CNV analysis adult specific v1.3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Other Expert Review Green Phenotypes Bowel cancer predisposition Adult only Hereditary non-polyposis colorectal cancer Tags adult-onset
Green List (high evidence)	MUTYH Additional findings health related - CNV analysis adult specific v1.3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Other Expert Review Green Phenotypes Adult only Bowel cancer predisposition MYH-associated polyposis Tags adult-onset
Green List (high evidence)	VHL Additional findings health related - CNV analysis children v1.1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Other Expert Review Green Phenotypes Von Hippel Lindau Syndrome Other cancer predisposition Adult and child Tags

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