Additional findings health related - adults (Version 2.4)

Description

This super panel lists all the health related additional findings genes for adults. 

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

13 Entities

0 reviewed, 13 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 13 Entitiess
Green List (high evidence)	APC Additional findings health related - children v1.1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Familial Adenomatous Polyposis Adult and child Bowel cancer predisposition Tags
Green List (high evidence)	APOB Additional findings health related - children v1.1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Other Expert Review Green Phenotypes Adult and child Familial hypercholesterolaemia Tags
Green List (high evidence)	BRCA1 Additional findings health related - adult specific v1.3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes {Breast-ovarian cancer, familial, 1}, OMIM:604370 Adult only Tags adult-onset
Green List (high evidence)	BRCA2 Additional findings health related - adult specific v1.3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list 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 - children v1.1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Adult and child Familial hypercholesterolaemia Tags
Green List (high evidence)	MEN1 Additional findings health related - children v1.1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Other cancer predisposition Adult and child Myltiple endocrine Neoplasia Type 1 Tags
Green List (high evidence)	MLH1 Additional findings health related - adult specific v1.3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Bowel cancer predisposition Hereditary non-polyposis colorectal cancer Adult only Tags adult-onset
Green List (high evidence)	MSH2 Additional findings health related - adult specific v1.3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Bowel cancer predisposition Hereditary non-polyposis colorectal cancer Adult only Tags adult-onset
Green List (high evidence)	MSH6 Additional findings health related - adult specific v1.3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Other Phenotypes Bowel cancer predisposition Hereditary non-polyposis colorectal cancer Adult only Tags adult-onset
Green List (high evidence)	MUTYH Additional findings health related - adult specific v1.3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Bowel cancer predisposition MYH-associated polyposis Adult only Tags adult-onset
Green List (high evidence)	PCSK9 Additional findings health related - children v1.1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Other Expert Review Green Phenotypes Adult and child Familial hypercholesterolaemia Tags
Green List (high evidence)	RET Additional findings health related - children v1.1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Other Expert Review Green Phenotypes Other cancer predisposition Myltiple endocrine Neoplasia Type 2 Adult and child Tags
Green List (high evidence)	VHL Additional findings health related - children v1.1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Other Expert Review Green Phenotypes Other cancer predisposition Von Hippel Lindau Syndrome Adult and child Tags

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