ClinGen_Familial thoracic aortic aneurysm and aortic dissection (Version 0.11)

Description

This is a list of genes that have been curated by ClinGen for association with Familial thoracic aortic aneurysm and aortic dissection and are available here https://search.clinicalgenome.org/kb/gene-validity.

The validity classification by ClinGen for each gene-disease is reflected in the gene rating:
- Green = definitive or strong
- Amber = moderate
- Red = Disputed, Disputed, Limited, No Reported Evidence, or Refuted 

For full report and publications, see the ClinGen Gene Validity Curation for each gene: https://search.clinicalgenome.org/kb/gene-validity. 

This panel was created on 22nd June 2017.

Panel Activity

1 reviewer

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other

53 Entities

53 reviewed, 11 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 53 Entitiess
Green Green List (high evidence)	ACTA2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Green Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Green Green List (high evidence)	COL3A1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Green Other Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Green Green List (high evidence)	FBN1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Green Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Green Green List (high evidence)	LOX	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Green Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Green Green List (high evidence)	MYH11	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Green Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Green Green List (high evidence)	MYLK	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Green Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Green Green List (high evidence)	PRKG1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Green Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Green Green List (high evidence)	SMAD3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Green Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Green Green List (high evidence)	TGFB2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Green Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Green Green List (high evidence)	TGFBR1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Green Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Green Green List (high evidence)	TGFBR2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Green Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Amber Amber List (moderate evidence)	EFEMP2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Amber Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Amber Amber List (moderate evidence)	FOXE3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Amber Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Amber Amber List (moderate evidence)	MFAP5	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Amber Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Red Red List (low evidence)	ACVRL1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Red Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Red Red List (low evidence)	ADAMTS10	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Red Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Red Red List (low evidence)	B3GAT3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Red Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Red Red List (low evidence)	BGN	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Red Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Red Red List (low evidence)	CBS	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Red Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Red Red List (low evidence)	COL11A1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Red Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Red Red List (low evidence)	COL18A1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Red Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Red Red List (low evidence)	COL1A1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Red Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Red Red List (low evidence)	COL1A2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Red Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Red Red List (low evidence)	COL4A1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Red Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Red Red List (low evidence)	COL4A5	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources ClinGen Expert Review Red Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Red Red List (low evidence)	COL5A1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Red Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Red Red List (low evidence)	COL5A2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Red Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Red Red List (low evidence)	COL9A1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Red Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Red Red List (low evidence)	COL9A2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Red Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Red Red List (low evidence)	DBP	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Red Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Red Red List (low evidence)	ELN	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Red Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Red Red List (low evidence)	EMILIN1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Red Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Red Red List (low evidence)	ENG	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Red Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Red Red List (low evidence)	FBN2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Red Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Red Red List (low evidence)	FLNA	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Red Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Red Red List (low evidence)	GATA5	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Red Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Red Red List (low evidence)	HCN4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Red Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Red Red List (low evidence)	JAG1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Red Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Red Red List (low evidence)	MAT2A	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Red Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Red Red List (low evidence)	MED12	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Red Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Red Red List (low evidence)	NOTCH1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Red Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Red Red List (low evidence)	PKD1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Red Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Red Red List (low evidence)	PKD2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Red Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Red Red List (low evidence)	PLOD1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Red Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Red Red List (low evidence)	PLOD3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Red Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Red Red List (low evidence)	SKI	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Red Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Red Red List (low evidence)	SLC2A10	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Red Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Red Red List (low evidence)	SMAD2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Red Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Red Red List (low evidence)	SMAD4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Red Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Red Red List (low evidence)	SMAD6	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Red Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Red Red List (low evidence)	TGFB3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Red Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Red Red List (low evidence)	UPF3B	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Red Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags
Red Red List (low evidence)	VCAN	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Red Phenotypes Familial thoracic aortic aneurysm and aortic dissection Tags

ClinGen_Familial thoracic aortic aneurysm and aortic dissection (Version 0.11)

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