Thoracic aortic aneurysm or dissection (Version 1.127)

Description

This panel is being used for the 100,000 Genomes Project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

Panel Activity

23 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Bill Newman (Manchester Centre for Genomic Medicine)

Group: other
Workplace: other
Helen Savage (Congenica Ltd)

Group: Other biotech or pharmaceutical
Workplace: Other clinical service
Matina Prapa (Genomics England Curator)

Group: GeCIP domain
Workplace: Other
Nick Camm (NHS)

Group: Other NHS organisation
Workplace: NHS diagnostic lab
David Parry (University of Edinburgh)

Group: GeCIP domain
Workplace: Research lab
Caroline Wright (Genomics England Curator)

Group: Other
Workplace: Genomics England
Ellen Thomas (Genomics England Curator)

Group: Other
Workplace: Other
Rebecca Foulger (Genomics England curator)

Group: Other
Workplace: Other
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
Helen Brittain (Genomics England Curator)

Group: Other
Workplace: Other
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Ataf Sabir (Birmingham Women's Hospital)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Anna de Burca (Genomics England Curator)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Chris Buxton (North Bristol NHS Trust)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Simon Thomas (Wessex)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
James Eden (Manchester)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Alison Callaway (Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Rebecca Whittington (South West GLH)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Dmitrijs Rots (Children's Clinical University Hospital)

Group: Other
Workplace: Research lab
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other

65 Entities

65 reviewed, 33 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 65 Entitiess
Green Green List (high evidence)	ABL1	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature South West GLH Phenotypes Congenital heart defects and skeletal malformations syndrome, 617602 Congenital finger flexion contractures (HP:0005879) Congenital septal defect (HP:0004760) Generalized joint laxity (HP:0002761) Ascending aortic dilation (HP:0004970) Scoliosis (HP:0002650) Failure to thrive in infancy (HP:0001531) Hypospadias (HP:0000047) Pectus excavatum (HP:0000767) Tags missense
Green Green List (high evidence)	ACTA2	6 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Aortic aneurysm, familial thoracic 6, 611788 Thoracic Aortic Aneurysms and Aortic Dissections Moyamoya disease 5 (614042) Thoracic aortic aneurysm and dissection Moyamoya disease 5, 614042 Isolated familial thoracic aortic aneurysms and dissection Multisystemic smooth muscle dysfunction syndrome (613834) Aortic aneurysm, familial thoracic 6 (611788) Multisystemic smooth muscle dysfunction syndrome, 613834 Tags
Green Green List (high evidence)	ADAMTSL4	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Ectopia lentis et pupillae Ectopia lentis, isolated, autosomal recessive Tags
Green Green List (high evidence)	ARIH1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Thoracic aortic aneurysm, MONDO:0005396 Tags
Green Green List (high evidence)	BGN	5 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green London South GLH Other South West GLH Phenotypes syndromic thoracic aortic aneurysm and dissection X-linked syndromic TAAD Tags
Green Green List (high evidence)	COL1A1	9 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green London South GLH South West GLH Phenotypes Ehlers-Danlos syndrome, classic, 130000 Ehlers-Danlos syndrome, type VIIA, 130060 Tags
Green Green List (high evidence)	COL1A2	9 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green London South GLH South West GLH Phenotypes Ehlers-Danlos syndrome, cardiac valvular form Ehlers-Danlos syndrome, type VIIB Tags
Green Green List (high evidence)	COL3A1	7 reviews 5 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green London South GLH North West GLH South West GLH UKGTN Phenotypes Loeys-Dietz syndrome Ehlers-Danlos syndrome, type IV, 130050 Ehlers-Danlos syndrome, vascular type (130050) Tags
Green Green List (high evidence)	COL5A1	9 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green London South GLH South West GLH Phenotypes Ehlers-Danlos syndrome, classic type, OMIM:130000 Fibromuscular dysplasia, multifocal, OMIM:619329 Tags
Green Green List (high evidence)	COL5A2	8 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green London South GLH South West GLH Phenotypes multisystemic smooth muscle dysfunction syndrome Ehlers-Danlos syndrome, classic type, 130000 Tags
Green Green List (high evidence)	EFEMP2	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green London South GLH South West GLH Phenotypes Cutis laxa, autosomal recessive, type IB, 614437 aortic aneurysm Tags
Green Green List (high evidence)	ELN	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green London South GLH South West GLH Phenotypes Cutis laxa, autosomal dominant, 123700 Supravalvar aortic stenosis, 185500 Tags
Green Green List (high evidence)	FBLN5	6 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green South West GLH Phenotypes ?Cutis laxa, autosomal dominant 2, OMIM:614434 Cutis laxa, autosomal recessive, type IA, OMIM:219100 Tags
Green Green List (high evidence)	FBN1	7 reviews 6 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Ectopia lentis, familial (129600) Marfan syndrome (154700) Marfan lipodystrophy syndrome (616914) Aortic aneurysm, ascending, and dissection Weill-Marchesani syndrome 2, dominant, (608328) Acromicric dysplasia (102370) Stiff skin syndrome (184900) MASS syndrome (604308) ongenital contracturalarachnodactyly Geleophysic dysplasia 2 (614185) Marfan Syndrome Tags
Green Green List (high evidence)	FBN2	6 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London South GLH Radboud University Medical Center, Nijmegen South West GLH Phenotypes Contractural arachnodactyly, congenital, 121050 Congenital Contractural Arachnodactyly Tags
Green Green List (high evidence)	FLCN	5 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services London South GLH South West GLH UKGTN Phenotypes Pneumothorax, primary spontaneous, 173600 Birt-Hogg-Dube syndrome,135150 Tags
Green Green List (high evidence)	FLNA	6 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert list Expert Review Green London South GLH South West GLH Phenotypes Cardiac valvular dysplasia, X-linked, OMIM:314400 Heterotopia, periventricular, 1, OMIM:300049 Tags
Green Green List (high evidence)	IPO8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Loeys-Dietz syndrome-like cardiovascular, neurologic, skeletal and immunologic abnormalities Tags
Green Green List (high evidence)	LOX	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature London South GLH South West GLH Phenotypes aortic aneurysm Aortic aneurysm, familial thoracic 10, 617168 Tags
Green Green List (high evidence)	MYH11	7 reviews 6 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Aortic aneurysm, familial thoracic 4, 132900 Aortic aneurysm, familial thoracic 4 (132900) Tags
Green Green List (high evidence)	MYLK	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Radboud University Medical Center, Nijmegen South West GLH Phenotypes Aortic aneurysm, familial thoracic 7, OMIM:613780 Tags
Green Green List (high evidence)	NOTCH1	6 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH South West GLH UKGTN Phenotypes Aortic valve disease 1, 109730 Tags
Green Green List (high evidence)	PLOD1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH Other South West GLH Phenotypes Ehlers-Danlos syndrome, type VI, 225400 kyphoscoliotic EDS Tags
Green Green List (high evidence)	PRKG1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH Radboud University Medical Center, Nijmegen South West GLH Phenotypes Aortic aneurysm, familial thoracic 8, 615436 Tags
Green Green List (high evidence)	SKI	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green London South GLH North West GLH South West GLH Phenotypes Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders Shprintzen-Goldberg Craniosynostosis Syndrome, 182212 Shprintzen-Goldberg syndrome (182212) Tags
Green Green List (high evidence)	SLC2A10	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green London South GLH South West GLH Phenotypes Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders Arterial tortuosity syndrome, 208050 Tags
Green Green List (high evidence)	SMAD2	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH Other South West GLH Phenotypes arterial aneurysms and dissections Tags
Green Green List (high evidence)	SMAD3	7 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Loeys Dietz syndrome, type 3, 613795 Loeys Dietz syndrome, type 3 (613795) Tags
Green Green List (high evidence)	SMAD4	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green London South GLH South West GLH Phenotypes Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 Tags
Green Green List (high evidence)	TGFB2	8 reviews 6 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Loeys-Dietz syndrome 4, 614816 Loeys-Dietz syndrome 4 (614816) Tags
Green Green List (high evidence)	TGFB3	7 reviews 3 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature London South GLH South West GLH Phenotypes Loeys-Dietz syndrome 5, 615582 Arrhythmogenic right ventricular dysplasia 1, 107970 Tags
Green Green List (high evidence)	TGFBR1	6 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Loeys-Dietz syndrome Loeys Dietz syndrome, type 2A, 608967 Loeys Dietz syndrome, type 1A, 609192 Loeys Dietz syndrome, type 1A (609192) Tags
Green Green List (high evidence)	TGFBR2	7 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Loeys-Dietz syndrome Loeys Dietz syndrome, type 2B, 610380 Loeys Dietz syndrome, type 2 (610168) Loeys Dietz syndrome, type 1B, 610168 Tags
Amber Amber List (moderate evidence)	CBS	6 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Amber South West GLH Phenotypes Marfan syndrome Tags
Red Red List (low evidence)	ABCC6	3 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list South West GLH Phenotypes #614473- Arterial calcification, generalized, of infancy, 2 #264800- Pseudoxanthoma elasticum #177850- Pseudoxanthoma elasticum, forme fruste Tags
Red Red List (low evidence)	ACVR1	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list South West GLH Tags
Red Red List (low evidence)	ADAMTS2	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list South West GLH Phenotypes 225410 Ehlers-Danlos syndrome, type VIIC Tags
Red Red List (low evidence)	ALDH18A1	3 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list South West GLH Tags
Red Red List (low evidence)	ATP6V0A2	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list South West GLH Tags
Red Red List (low evidence)	ATP7A	3 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list South West GLH Tags
Red Red List (low evidence)	B4GALT7	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list South West GLH Tags
Red Red List (low evidence)	CHST14	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list South West GLH Tags
Red Red List (low evidence)	COL11A1	3 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list South West GLH Tags
Red Red List (low evidence)	COL11A2	3 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list South West GLH Tags
Red Red List (low evidence)	COL2A1	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list South West GLH Tags
Red Red List (low evidence)	COL4A1	4 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen South West GLH Phenotypes Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps Angiopathy, hereditary, with nephropathy, aneurysms, and muscle, 611773 Tags
Red Red List (low evidence)	COL9A1	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list South West GLH Tags
Red Red List (low evidence)	COL9A2	3 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list South West GLH Tags
Red Red List (low evidence)	COL9A3	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list South West GLH Tags
Red Red List (low evidence)	EMILIN1	1 review	Not set	Sources London South GLH Tags
Red Red List (low evidence)	FKBP14	5 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red South West GLH Tags
Red Red List (low evidence)	FOXE3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature London South GLH South West GLH Phenotypes {Aortic aneurysm, familial thoracic 11, susceptibility to} Tags
Red Red List (low evidence)	HNRNPK	4 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Other South West GLH Tags
Red Red List (low evidence)	KCNN1	3 reviews 2 red	Unknown	Sources South West GLH UKGTN Tags
Red Red List (low evidence)	LTBP2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature South West GLH Phenotypes Marfan syndrome Tags
Red Red List (low evidence)	MAT2A	1 review	Not set	Sources London South GLH Tags
Red Red List (low evidence)	MED12	7 reviews 2 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Red London South GLH South West GLH Phenotypes Lujan-Fryns syndrome, OMIM:309520 Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders Tags
Red Red List (low evidence)	MFAP5	4 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London South GLH Other South West GLH Phenotypes Aortic aneurysm, familial thoracic 9, 616166 Tags
Red Red List (low evidence)	MYLK2	1 review	Not set	Sources London South GLH Tags
Red Red List (low evidence)	PKD1	4 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Red Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Polycystic kidney disease, adult type I,173900 Connective Tissue Disorders Tags
Red Red List (low evidence)	PKD2	4 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen South West GLH Phenotypes Polycystic kidney disease 2, 613095 Connective Tissue Disorders Tags
Red Red List (low evidence)	SLC39A13	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list South West GLH Tags
Red Red List (low evidence)	SMAD6	1 review	Not set	Sources London South GLH Tags
Red Red List (low evidence)	TNXB	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list South West GLH Tags
Red Red List (low evidence)	ZNF469	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list South West GLH Tags

Thoracic aortic aneurysm or dissection (Version 1.127)

23 reviewers

65 Entities

65 reviewed, 33 green

4 reviews

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