Additional findings health related (Version 0.116)

Description

This panel is NO LONGER ACTIVELY MAINTAINED.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. 

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This is the list of genes for reporting back additional findings according to the Annex No.1 document.

Panel Activity

2 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 14 Entitiess
Green List (high evidence)	APC	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Bowel cancer predisposition Familial Adenomatous Polyposis Adult and child Tags
Green List (high evidence)	APOB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Familial hypercholesterolaemia Adult and child Tags
Green List (high evidence)	BRCA1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes {Breast-ovarian cancer, familial, 1}, OMIM:604370 Breast and ovarian cancer predisposition Adult only Tags adult-onset
Green List (high evidence)	BRCA2	1 review	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	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Familial hypercholesterolaemia Adult and child Tags
Green List (high evidence)	MEN1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Other cancer predisposition Myltiple endocrine Neoplasia Type 1 Adult and child Tags
Green List (high evidence)	MLH1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Bowel cancer predisposition Hereditary non-polyposis colorectal cancer Adult only Tags adult-onset
Green List (high evidence)	MSH2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Bowel cancer predisposition Hereditary non-polyposis colorectal cancer Adult only Tags adult-onset
Green List (high evidence)	MSH6	1 review	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	1 review	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	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Other Phenotypes Familial hypercholesterolaemia Adult and child Tags
Green List (high evidence)	RET	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Other Phenotypes Other cancer predisposition Myltiple endocrine Neoplasia Type 2 Adult and child Tags
Green List (high evidence)	VHL	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Other Phenotypes Other cancer predisposition Von Hippel Lindau Syndrome Adult and child Tags
No list	CFTR	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Removed Phenotypes ENST00000003084.10 Carrier status Cystic Fibrosis Adult-only Tags adult-onset curated_removed

Additional findings health related (Version 0.116)

2 reviewers

14 Entities

14 reviewed, 13 green

1 review

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