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 NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects of the assay(s) available.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your 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 created based on submitted gene lists from GLHs:
Green rated genes = from 3 GLHs
Amber rated genes = from 2 GLHs or Green on the 100K panel
Red rated genes = from 1 GLH

18 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

  • Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • 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

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

  • 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

62 Entities

62 reviewed, 21 green

List Entity Reviews Mode of inheritance Details
62 Entitiess
Green Green List (high evidence)
ACTA2
8 reviews
7 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
  • South West GLH
Phenotypes
  • Aortic aneurysm, familial thoracic 6, 611788
  • Aortic aneurysm, familial thoracic 6 (611788)
  • Thoracic aortic aneurysm and dissection
  • Multisystemic smooth muscle dysfunction syndrome, 613834
  • Moyamoya disease 5 (614042)
  • Thoracic Aortic Aneurysms and Aortic Dissections
  • Multisystemic smooth muscle dysfunction syndrome (613834)
  • Moyamoya disease 5, 614042
  • Isolated familial thoracic aortic aneurysms and dissection
Tags
Green Green List (high evidence)
BGN
6 reviews
4 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
  • NHS GMS
  • South West GLH
Phenotypes
  • X-linked syndromic TAAD
  • syndromic thoracic aortic aneurysm and dissection
Tags
Green Green List (high evidence)
CBS
8 reviews
3 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • South West GLH
Phenotypes
  • Marfan syndrome
  • Homocystinuria, B6-responsive and nonresponsive types, 236200
Tags
Green Green List (high evidence)
COL3A1
8 reviews
7 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
  • South West GLH
Phenotypes
  • Ehlers-Danlos syndrome, type IV, 130050
  • Loeys-Dietz syndrome
  • Ehlers-Danlos syndrome, vascular type (130050)
Tags
Green Green List (high evidence)
COL5A1
9 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Ehlers-Danlos syndrome, classic type, 130000
  • Ehlers-Danlos syndrome vascular type
Tags
Green Green List (high evidence)
COL5A2
9 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Ehlers-Danlos syndrome, classic type, 130000
  • multisystemic smooth muscle dysfunction syndrome
Tags
Green Green List (high evidence)
EFEMP2
8 reviews
6 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Cutis laxa, autosomal recessive, type IB, 614437
  • aortic aneurysm
Tags
Green Green List (high evidence)
FBN1
9 reviews
8 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
  • South West GLH
Phenotypes
  • Weill-Marchesani syndrome 2, dominant, (608328)
  • Marfan syndrome (154700)
  • Ectopia lentis, familial (129600)
  • Marfan lipodystrophy syndrome (616914)
  • MASS syndrome (604308)
  • Stiff skin syndrome (184900)
  • Geleophysic dysplasia 2 (614185)
  • Marfan Syndrome
  • Aortic aneurysm, ascending, and dissection
  • ongenital contracturalarachnodactyly
  • Acromicric dysplasia (102370)
Tags
Green Green List (high evidence)
FBN2
9 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • South West GLH
Phenotypes
  • Congenital Contractural Arachnodactyly
  • Contractural arachnodactyly, congenital, 121050
Tags
Green Green List (high evidence)
LOX
7 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Aortic aneurysm, familial thoracic 10, 617168
  • aortic aneurysm
Tags
Green Green List (high evidence)
MYH11
9 reviews
8 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
  • South West GLH
Phenotypes
  • Aortic aneurysm, familial thoracic 4, 132900
  • Aortic aneurysm, familial thoracic 4 (132900)
Tags
Green Green List (high evidence)
MYLK
7 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
  • South West GLH
Phenotypes
  • Aortic aneurysm, familial thoracic 7 (613780)
  • Aortic aneurysm, familial thoracic 7, 613780
Tags
Green Green List (high evidence)
NOTCH1
9 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Aortic valve disease 1, 109730
Tags
Green Green List (high evidence)
PRKG1
7 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Aortic aneurysm, familial thoracic 8, 615436
Tags
Green Green List (high evidence)
SKI
7 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
  • South West GLH
Phenotypes
  • Shprintzen-Goldberg Craniosynostosis Syndrome, 182212
  • Shprintzen-Goldberg syndrome (182212)
  • Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders
Tags
Green Green List (high evidence)
SLC2A10
9 reviews
7 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • South West GLH
Phenotypes
  • Arterial tortuosity syndrome, 208050
  • Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders
Tags
Green Green List (high evidence)
SMAD3
8 reviews
7 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
  • South West GLH
Phenotypes
  • Loeys Dietz syndrome, type 3 (613795)
  • Loeys Dietz syndrome, type 3, 613795
Tags
Green Green List (high evidence)
TGFB2
10 reviews
8 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
  • South West GLH
Phenotypes
  • Loeys-Dietz syndrome 4, 614816
  • Loeys-Dietz syndrome 4 (614816)
Tags
Green Green List (high evidence)
TGFB3
10 reviews
6 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • 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
8 reviews
7 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
  • South West GLH
Phenotypes
  • Loeys Dietz syndrome, type 2A, 608967
  • Loeys-Dietz syndrome
  • Loeys Dietz syndrome, type 1A, 609192
  • Loeys Dietz syndrome, type 1A (609192)
Tags
Green Green List (high evidence)
TGFBR2
9 reviews
7 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
  • South West GLH
Phenotypes
  • Loeys-Dietz syndrome
  • Loeys Dietz syndrome, type 1B, 610168
  • Loeys Dietz syndrome, type 2 (610168)
  • Loeys Dietz syndrome, type 2B, 610380
Tags
Amber Amber List (moderate evidence)
ABL1
5 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review Green
  • Literature
  • South West GLH
Phenotypes
  • Failure to thrive in infancy (HP:0001531)
  • Generalized joint laxity (HP:0002761)
  • Ascending aortic dilation (HP:0004970)
  • Congenital finger flexion contractures (HP:0005879)
  • Hypospadias (HP:0000047)
  • Pectus excavatum (HP:0000767)
  • Congenital heart defects and skeletal malformations syndrome, 617602
  • Scoliosis (HP:0002650)
  • Congenital septal defect (HP:0004760)
Tags
Amber Amber List (moderate evidence)
ELN
8 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • London South GLH
  • South West GLH
Phenotypes
  • Supravalvar aortic stenosis, 185500
  • Cutis laxa, autosomal dominant, 123700
Tags
Amber Amber List (moderate evidence)
FBLN5
7 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • South West GLH
Tags
Amber Amber List (moderate evidence)
FKBP14
7 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • South West GLH
Phenotypes
  • Ehlers-Danlos syndrome, kyphoscoliotic type, 2 614557
Tags
Amber Amber List (moderate evidence)
FLNA
8 reviews
4 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 Amber
  • London South GLH
  • South West GLH
Phenotypes
  • Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders
  • Cardiac valvular dysplasia, X-linked 314400
Tags
Amber Amber List (moderate evidence)
FOXE3
5 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • London South GLH
  • South West GLH
Phenotypes
  • Aortic aneurysm, familial thoracic 11, (susceptibility to) 617349
Tags
Amber Amber List (moderate evidence)
MFAP5
7 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • London South GLH
  • South West GLH
Phenotypes
  • Aortic aneurysm, familial thoracic 9, 616166
Tags
Amber Amber List (moderate evidence)
PLOD1
7 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London South GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • kyphoscoliotic EDS
  • Ehlers-Danlos syndrome, type VI, 225400
Tags
Amber Amber List (moderate evidence)
SMAD2
7 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • London South GLH
  • South West GLH
Phenotypes
  • arterial aneurysms and dissections
Tags
Amber Amber List (moderate evidence)
SMAD4
8 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • London South GLH
  • South West GLH
Phenotypes
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050
Tags
Amber Amber List (moderate evidence)
SMAD6
3 reviews
Not set
Sources
  • Expert Review Amber
  • London South GLH
  • NHS GMS
Tags
Red Red List (low evidence)
ABCC6
5 reviews
4 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • South West GLH
Tags
Red Red List (low evidence)
ACVR1
5 reviews
4 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • South West GLH
Tags
Red Red List (low evidence)
ADAMTS2
5 reviews
4 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • South West GLH
Tags
Red Red List (low evidence)
ALDH18A1
5 reviews
4 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • South West GLH
Tags
Red Red List (low evidence)
ATP6V0A2
5 reviews
4 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • South West GLH
Tags
Red Red List (low evidence)
ATP7A
5 reviews
3 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • South West GLH
Tags
Red Red List (low evidence)
B4GALT7
5 reviews
4 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • South West GLH
Tags
Red Red List (low evidence)
CHST14
5 reviews
4 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • South West GLH
Tags
Red Red List (low evidence)
COL11A1
5 reviews
4 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • South West GLH
Tags
Red Red List (low evidence)
COL11A2
5 reviews
4 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • South West GLH
Tags
Red Red List (low evidence)
COL1A1
9 reviews
2 green 3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • London South GLH
  • South West GLH
Phenotypes
  • Ehlers-Danlos syndrome, classic, 130000
  • Ehlers-Danlos syndrome, type VIIA, 130060
Tags
Red Red List (low evidence)
COL1A2
8 reviews
2 green 2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London South GLH
  • South West GLH
Phenotypes
  • Ehlers-Danlos syndrome, cardiac valvular form
  • Ehlers-Danlos syndrome, type VIIB
Tags
Red Red List (low evidence)
COL2A1
5 reviews
4 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • South West GLH
Tags
Red Red List (low evidence)
COL4A1
6 reviews
5 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • South West GLH
Phenotypes
  • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle, 611773
  • Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps
Tags
Red Red List (low evidence)
COL9A1
5 reviews
4 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • South West GLH
Tags
Red Red List (low evidence)
COL9A2
5 reviews
4 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • South West GLH
Tags
Red Red List (low evidence)
COL9A3
5 reviews
4 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • South West GLH
Tags
Red Red List (low evidence)
EMILIN1
4 reviews
3 red
Not set
Sources
  • Expert Review Red
  • London South GLH
Tags
Red Red List (low evidence)
FLCN
6 reviews
3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • London South GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Birt-Hogg-Dube syndrome,135150
  • Pneumothorax, primary spontaneous, 173600
Tags
Red Red List (low evidence)
HNRNPK
6 reviews
4 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • South West GLH
Tags
Red Red List (low evidence)
KCNN1
5 reviews
4 red
Unknown
Sources
  • Expert Review Red
  • South West GLH
Tags
Red Red List (low evidence)
LTBP2
4 reviews
3 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • South West GLH
Phenotypes
  • Marfan syndrome
Tags
Red Red List (low evidence)
MAT2A
4 reviews
2 red
Not set
Sources
  • Expert Review Red
  • London South GLH
Tags
Red Red List (low evidence)
MED12
9 reviews
2 green 4 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • London South GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Lujan-Fryns syndrome, 309520
  • Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders
Tags
Red Red List (low evidence)
MYLK2
4 reviews
3 red
Not set
Sources
  • Expert Review Red
  • London South GLH
Tags
Red Red List (low evidence)
PKD1
4 reviews
3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • South West GLH
Phenotypes
  • Connective Tissue Disorders
  • Polycystic kidney disease, adult type I,173900
Tags
Red Red List (low evidence)
PKD2
4 reviews
3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • South West GLH
Phenotypes
  • Connective Tissue Disorders
  • Polycystic kidney disease 2, 613095
Tags
Red Red List (low evidence)
SLC39A13
5 reviews
4 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • South West GLH
Tags
Red Red List (low evidence)
TNXB
5 reviews
4 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • South West GLH
Tags
Red Red List (low evidence)
ZNF469
5 reviews
4 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • South West GLH
Tags

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