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'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated signed off version number. 

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.

27 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Bill Newman (Manchester Centre for Genomic Medicine)

    Group: other
    Workplace: other

  • Tracy Lester (Genetics laboratory, Oxford UK)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • 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

  • Kate Thomson (Oxford University Hospitals Foundation Trust)

    Group: NHS Genomic Medicine Centre
    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

  • krishna chatterjee (Institute of Metabolic Science, University of Cambridge)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • 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

  • 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

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Achchuthan Shanmugasundram (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Andrew Mumford (University of Bristol)

    Group: GeCIP domain
    Workplace: Research lab

70 Entities

70 reviewed, 33 green

List Entity Reviews Mode of inheritance Details
70 Entitiess
Green Green List (high evidence)
ABL1
6 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • 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
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)
ASPH
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Traboulsi syndrome, OMIM:601552
  • facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome, MONDO:0011106
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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
10 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, OMIM:130000
  • Fibromuscular dysplasia, multifocal, OMIM:619329
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)
ELN
9 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • South West GLH
Phenotypes
  • Supravalvar aortic stenosis, 185500
  • Cutis laxa, autosomal dominant, 123700
Tags
Green Green List (high evidence)
FBLN5
8 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • 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
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)
FKBP14
8 reviews
3 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • Ehlers-Danlos syndrome, kyphoscoliotic type, 2 614557
Tags
Green Green List (high evidence)
FLNA
9 reviews
5 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
  • South West GLH
Phenotypes
  • Cardiac valvular dysplasia, X-linked, OMIM:314400
  • Heterotopia, periventricular, 1, OMIM:300049
Tags
Green Green List (high evidence)
IPO8
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Loeys-Dietz syndrome-like
  • cardiovascular, neurologic, skeletal and immunologic abnormalities
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)
MFAP5
8 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • South West GLH
Phenotypes
  • Aortic aneurysm, familial thoracic 9, 616166
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, OMIM: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)
PLOD1
8 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • kyphoscoliotic EDS
  • Ehlers-Danlos syndrome, type VI, 225400
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)
SMAD2
8 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • South West GLH
Phenotypes
  • arterial aneurysms and dissections
Tags
Green Green List (high evidence)
SMAD3
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, type 3 (613795)
  • Loeys Dietz syndrome, type 3, 613795
Tags
Green Green List (high evidence)
SMAD4
9 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • South West GLH
Phenotypes
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050
Tags
Green Green List (high evidence)
SMAD6
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • Aortic valve disease 2 614823
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)
ARIH1
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Thoracic aortic aneurysm, MONDO:0005396
Tags
Amber Amber List (moderate evidence)
FOXE3
8 reviews
2 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)
LTBP3
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Short stature
  • dental anomalies
  • aortopathy
  • facial dysmorphism
  • learning disability
  • Dental anomalies and short stature, OMIM:601216
Tags
Amber Amber List (moderate evidence)
PMEPA1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Research
Phenotypes
  • thoracic aortic aneurysm, MONDO:0005396
  • tall stature
  • dolichocephaly
  • abnormal axial skeletal morphology
  • pes planus
  • Loeys-Dietz syndrome, MONDO:0018954
Tags
  • Q4_23_NHS_review
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
SECISBP2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Thyroid hormone metabolism, abnormal, 1, OMIM:609698
  • thoracic aortic aneurysm
Tags
  • Q2_24_NHS_review
  • Q2_24_promote_green
Amber Amber List (moderate evidence)
THSD4
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • familial thoracic aortic aneurysm and aortic dissection, MONDO:0019625
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
9 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)
HEY2
2 reviews
1 red
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • congenital heart defects, multiple type, MONDO:0000119
  • thoracic aortic aneurysm, MONDO:0005396
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, OMIM: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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