Genomics England

Thoracic aortic aneurysm or dissection (GMS) (Version: )

Relevant disorders: Thoracic aortic aneurysm and dissection, R125

Signed off date: 22 Mar 2023

Panel types: GMS Rare Disease Virtual, GMS signed-off

33 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ABL1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ACTA2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ASPH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BGN	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	CBS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL3A1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL5A1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	COL5A2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EFEMP2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ELN	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FBLN5	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FBN1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FBN2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FKBP14	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FLNA	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	IPO8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LOX	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MFAP5	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MYH11	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MYLK	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NOTCH1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PLOD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRKG1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SKI	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SLC2A10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMAD2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SMAD3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SMAD4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SMAD6	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TGFB2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TGFB3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TGFBR1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TGFBR2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A

Thoracic aortic aneurysm or dissection (GMS) (Version: 3.02.01.2)

Thoracic aortic aneurysm or dissection (GMS) (Version: )