Description
This panel is used as a virtual panel to analyse genome or exome data in the NHS Genomic Medicine Service; the panel will routinely be applied for clinical indication 'R125 Thoracic aortic aneurysm or dissection' but can also be used as part of the analysis for a broader clinical presentation, where relevant.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R125 Thoracic aortic aneurysm or dissection'.

The content of this panel is overseen by the NHS Genomic Medicine Service governance.

If this panel is not being delivered by WGS, CNVs and STRs may not be routinely included in the analysis. Please contact your local Genomic Laboratory Hub for information regarding specific queries.

Some of the genes in this panel cause conditions that typically present in adulthood. Please consider this when applying the panel.

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

15 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

  • 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

  • Ataf Sabir (Birmingham Women's Hospital)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS 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

  • Simon Thomas (Wessex)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • James Eden (Manchester)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

63 Entities

63 reviewed, 30 green

List Entity Reviews Mode of inheritance Details
63 Entitiess
Green Green List (high evidence)
ABL1
2 reviews
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
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • 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)
BGN
2 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
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
5 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • 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
5 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • 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
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • 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
5 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • London South GLH
  • South West GLH
Phenotypes
  • Ehlers-Danlos syndrome vascular type
  • Ehlers-Danlos syndrome, classic type, 130000
Tags
Green Green List (high evidence)
COL5A2
5 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • 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
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • London South GLH
  • South West GLH
Phenotypes
  • Cutis laxa, autosomal recessive, type IB, 614437
  • aortic aneurysm
Tags
Green Green List (high evidence)
ELN
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • London South GLH
  • South West GLH
Phenotypes
  • Cutis laxa, autosomal dominant, 123700
  • Supravalvar aortic stenosis, 185500
Tags
Green Green List (high evidence)
FBN1
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • 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
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • 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)
FLNA
4 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • London South GLH
  • South West GLH
Phenotypes
  • Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders
Tags
Green Green List (high evidence)
LOX
3 reviews
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)
MED12
5 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • London South GLH
  • South West GLH
Phenotypes
  • Lujan-Fryns syndrome, 309520
  • Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders
Tags
Green Green List (high evidence)
MYH11
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • 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
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • 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, 613780
  • Aortic aneurysm, familial thoracic 7 (613780)
Tags
Green Green List (high evidence)
NOTCH1
5 reviews
1 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
3 reviews
1 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
3 reviews
2 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
4 reviews
3 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
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • 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
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • Other
  • South West GLH
Phenotypes
  • arterial aneurysms and dissections
Tags
  • watchlist
Green Green List (high evidence)
SMAD3
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • 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
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • London South GLH
  • South West GLH
Phenotypes
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050
Tags
Green Green List (high evidence)
TGFB2
6 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • 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
5 reviews
1 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
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • 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
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • 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
Green Green List (high evidence)
FLCN
3 reviews
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
Amber Amber List (moderate evidence)
PKD1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Polycystic kidney disease, adult type I,173900
  • Connective Tissue Disorders
Tags
Amber Amber List (moderate evidence)
PKD2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • 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)
ABCC6
2 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • South West GLH
Tags
Red Red List (low evidence)
ACVR1
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • South West GLH
Tags
Red Red List (low evidence)
ADAMTS2
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • South West GLH
Tags
Red Red List (low evidence)
ALDH18A1
2 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • South West GLH
Tags
Red Red List (low evidence)
ATP6V0A2
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • South West GLH
Tags
Red Red List (low evidence)
ATP7A
2 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • South West GLH
Tags
Red Red List (low evidence)
B4GALT7
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • South West GLH
Tags
Red Red List (low evidence)
CBS
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • South West GLH
Phenotypes
  • Marfan syndrome
Tags
Red Red List (low evidence)
CHST14
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • South West GLH
Tags
Red Red List (low evidence)
COL11A1
2 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • South West GLH
Tags
Red Red List (low evidence)
COL11A2
2 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • South West GLH
Tags
Red Red List (low evidence)
COL2A1
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • South West GLH
Tags
Red Red List (low evidence)
COL4A1
3 reviews
2 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
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • South West GLH
Tags
Red Red List (low evidence)
COL9A2
2 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • South West GLH
Tags
Red Red List (low evidence)
COL9A3
2 reviews
1 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)
FBLN5
4 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • South West GLH
Tags
Red Red List (low evidence)
FKBP14
4 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • South West GLH
Tags
Red Red List (low evidence)
FOXE3
1 review
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
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Other
  • South West GLH
Tags
Red Red List (low evidence)
KCNN1
2 reviews
1 red
Unknown
Sources
  • South West GLH
  • UKGTN
Tags
Red Red List (low evidence)
LTBP2
1 review
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)
MFAP5
3 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)
SLC39A13
2 reviews
1 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
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • South West GLH
Tags
Red Red List (low evidence)
ZNF469
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • South West GLH
Tags
No list No list
ADAMTSL4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
Tags

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