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

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

  • 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

  • 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

63 Entities

63 reviewed, 30 green

List Entity Reviews Mode of inheritance Details
63 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)
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
8 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
8 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 vascular type
  • Ehlers-Danlos syndrome, classic type, 130000
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)
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
4 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
  • Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders
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)
MED12
6 reviews
2 green 1 red
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
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, 613780
  • Aortic aneurysm, familial thoracic 7 (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
4 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
  • watchlist
Green Green List (high evidence)
SMAD3
6 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)
PKD1
2 reviews
1 red
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
2 reviews
1 red
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
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)
ADAMTSL4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
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)
CBS
5 reviews
1 green 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
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)
FBLN5
5 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
  • South West 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)
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)
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

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