Description
This panel is designed for analysis of families with a working or clinical diagnosis of any of the Ehlers-Danlos syndromes subtypes set out in 'The 2017 international classification of the Ehlers–Danlos syndromes' Malfait et al., 2017 (PMID: 28306229). 
In addition, this panel has been designed to capture the main differential diagnoses for these syndromes, including connective tissue phenotypes associated with vascular disease. Where participants have a vascular phenotype, as defined by the submitted HPO terms, they will be offered the Familial Thoracic Aortic Aneurysm Disease panel in addition, to capture aetiologies associated with an isolated vascular phenotype.

Clinical EDS subtypes included:
•	Classical EDS
•	Classical-like EDS
•	Cardiac-valvular EDS
•	Vascular EDS
•	Hypermobile EDS
•	Arthrochalasia EDS
•	Dermatosparaxis EDS
•	Kyphoscoliotic EDS
•	Brittle Cornea syndrome
•	Spondylodysplastic EDS
•	Musculocontractural EDS
•	Myopathic EDS
•	Periodontal EDS

This panel was reviewed by several members of The Ehlers Danlos Society, to find out more about the society see : https://ehlers-danlos.com

10 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)

    Group: GeCIP domain
    Workplace: NHS diagnostic lab

  • Raymond Dalgleish (University of Leicester)

    Group: GeCIP domain
    Workplace: Research lab

  • Ellen Thomas (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Neeti Ghali (NWTRGS, Northwick Park Hospital)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Helen Brittain (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Angela Brady (Nhs)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Anna de Burca (Genomics England Curator)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

74 Entities

74 reviewed, 56 green

List Entity Reviews Mode of inheritance Details
74 Entitiess
Green Green List (high evidence)
ABCC6
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Pseudoxanthoma elasticum, AR
  • 264800
  • Pseudoxanthoma elasticum, forme fruste, AD
  • 177850
Green Green List (high evidence)
ADAMTS2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Ehlers Danlos syndrome, type VIIC, 225410
  • Ehlers-Danlos Syndrome, Dermatosparaxis Type
  • Dermatosparaxis EDS
  • dEDS
  • EDSVIIC
  • EDS7C
Green Green List (high evidence)
AEBP1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Ehlers-Danlos syndrome type
  • EDS type
  • Part of the EDS spectrum
Green Green List (high evidence)
ALDH18A1
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Cutis laxa, autosomal recessive, type IIIA, 219150
  • Cutis laxa, autosomal dominant 3, 616603
Green Green List (high evidence)
ATP6V0A2
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Cutis laxa, autosomal recessive, type IIA, 219200
  • Wrinkly skin syndrome, 278250
Green Green List (high evidence)
ATP6V1A
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Cutis laxa, autosomal recessive, type IID, 617403
Green Green List (high evidence)
ATP7A
3 reviews
3 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Menkes disease, 309400
  • Occipital horn syndrome, 304150
  • Connective Tissues Disorders
  • Cutis laxa
Green Green List (high evidence)
B3GALT6
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
Phenotypes
  • Ehlers Danlos syndrome, progeroid type, 2, 615349
  • Spondylodysplastic EDS
  • spEDS-B3GALT6
  • Progeroid EDS
  • Spondylodysplastic EDS due to B3GALT6-deficiency
  • EDS progeroid type 2
  • EDS B3GALT6
Green Green List (high evidence)
B4GALT7
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ehlers-Danlos syndrome with short stature and limb anomalies, 130070
  • Spondylodysplastic EDS
  • spEDS-B4GALT7
  • Progeroid EDS
  • Spondylodysplastic EDS due to B4GALT7-deficiency
  • EDS progeroid type
  • Ehlers Danlos syndrome, progeroid type 1
Green Green List (high evidence)
BGN
3 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
  • Other
Phenotypes
  • Meester-Loeys syndrome, 300989
Green Green List (high evidence)
C1R
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ehlers-Danlos syndrome periodontal type 1, 130080
  • Periodontal Ehlers-Danlos syndrome
  • Periodontal EDS
  • pEDS
  • EDS type VIII
  • Ehlers-Danlos Syndrome periodontitis type
  • EDSVIII
  • EDSPD1
Green Green List (high evidence)
C1S
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ehlers-Danlos syndrome periodontal type 2, 617174
  • Periodontal Ehlers-Danlos syndrome
  • Periodontal EDS
  • pEDS
  • EDS type VIII
Green Green List (high evidence)
CBS
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Homocystinuria, B6-responsive and nonresponsive types, 236200
  • Homocystinuria Due To Cystathionine Beta‐Synthase Deficiency
  • Homocystinuria
  • Thrombosis, hyperhomocysteinemic
Tags
  • treatable
Green Green List (high evidence)
CHST14
6 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review
  • Expert Review Green
  • Emory Genetics Laboratory
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ehlers Danlos syndrome, musculocontractural type 1, 601776
  • EDSMC1
  • Musculocontractural EDS
  • mcEDS-CHST14
  • Adducted thumb-club foot syndrome (ATCS)
  • EDS Kosho type (EDS-KT)
  • D4ST1-deficient EDS
Green Green List (high evidence)
COL11A1
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • UKGTN
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Stickler syndrome, type II, 604841
  • Connective Tissue Disorders
  • Marshall syndrome, 154780
  • Fibrochondrogenesis, 228520
Green Green List (high evidence)
COL11A2
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Stickler syndrome, type III, (AD),184840
  • Otospondylomegaepiphyseal dysplasia,(AR) 215150
  • Weissenbacher-Zweymuller syndrome, (AD), 277610
  • Fibrochondrogenesis 2, (AR,AD), 614524
  • Connective Tissue Disorders
Green Green List (high evidence)
COL12A1
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Myopathic EDS
  • mEDS
  • EDS/Myopathy overlap syndrome
  • Ehlers-Danlos syndrome, Myopathic type
Green Green List (high evidence)
COL1A1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Ehlers-Danlos syndrome, classic type, 130000
  • Classical EDS (rare)
  • cEDS
  • Ehlers-Danlos syndrome, type VIIA, 130060
  • Arthrochalasia EDS
  • aEDS
  • Vascular EDS (rare)
  • vEDS
Green Green List (high evidence)
COL1A2
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Ehlers Danlos syndrome, type VIIB (AD), 130060
  • Ehlers-Danlos Syndrome, Arthrochalasia Type
  • Arthrochalasia EDS
  • aEDS
  • Ehlers Danlos syndrome, cardiac valvular form (AR), 225320
  • Cardiac-valvular EDS
  • cvEDS
Green Green List (high evidence)
COL2A1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Stickler syndrome, type I, 108300
  • Connective Tissue Disorders
  • Kniest dysplasia, 156550
  • Achondrogenesis, type II or hypochondrogenesis, 200610
  • SED congenita, 183900
  • SMED Strudwick type, 184250
  • Epiphyseal dysplasia, multiple, with myopia and deafness, 132450
Green Green List (high evidence)
COL3A1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ehlers Danlos syndrome, type IV, 130050
  • Vascular EDS
  • vEDS
  • Ehlers-Danlos Syndrome, Vascular Type
  • Sack-Barabas syndrome
Green Green List (high evidence)
COL5A1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Ehlers-Danlos syndrome, classic type, 130000
  • Classical EDS
  • cEDS
  • Ehlers-Danlos syndrome vascular type I
  • Ehlers-Danlos syndrome type II
  • Ehlers-Danlos syndrome, Gravis type
  • Ehlers-Danlos syndrome, Mitis type
Green Green List (high evidence)
COL5A2
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Ehlers-Danlos syndrome, classic type, 130000
  • Classical EDS
  • cEDS
  • Ehlers-Danlos syndrome vascular type I
  • Ehlers-Danlos syndrome type II
  • Ehlers-Danlos syndrome, Gravis type
  • Ehlers-Danlos syndrome, Mitis type
Green Green List (high evidence)
COL6A1
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Bethlem myopathy 1,158810
  • Ullrich congenital muscular dystrophy 1,254090
  • Myopathic EDS
Green Green List (high evidence)
COL6A2
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Bethlem myopathy 1,158810
  • Ullrich congenital muscular dystrophy 1,254090
  • Myopathic EDS
Green Green List (high evidence)
COL6A3
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Bethlem myopathy 1,158810
  • Ullrich congenital muscular dystrophy 1,254090
  • Myopathic EDS
Green Green List (high evidence)
COL9A1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Stickler syndrome, type IV, 614134
  • ?Epiphyseal dysplasia, multiple, 6, 614135
  • Connective Tissue Disorders
Green Green List (high evidence)
COL9A2
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Stickler syndrome, type V, (AR), 614284
  • Epiphyseal dysplasia, multiple, 2, (AD), 600204
  • Connective Tissue Disorders
Green Green List (high evidence)
COL9A3
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Stickler syndrome VI
  • Connective Tissue Disorders
  • Epiphyseal dysplasia, multiple, 3, with or without myopathy, 600969
Green Green List (high evidence)
DSE
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • ?Ehlers Danlos syndrome, musculocontractural type 2, 615539
  • EDSMC2
  • Musculocontractural EDS (mcEDS-DSE)
  • EDS Musculocontractural type
  • DSE-deficient EDS
Tags
  • missense
Green Green List (high evidence)
EFEMP2
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Cutis laxa, autosomal recessive, type IB, 614437
Green Green List (high evidence)
ELN
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cutis laxa, AD, 123700
Green Green List (high evidence)
FBLN5
4 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cutis laxa, autosomal dominant 2, 614434
  • Cutis laxa, autosomal recessive, type IA, 219100
Green Green List (high evidence)
FBN1
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Marfan syndrome,154700
Green Green List (high evidence)
FBN2
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Contractural arachnodactyly, congenital, 121050
Green Green List (high evidence)
FKBP14
6 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • Ehlers-Danlos Syndrome, Kyphoscoliotic Form
  • Ehlers Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557
  • Kyphoscoliotic EDS
  • kEDS-FKBP14
  • EDS VI
  • EDS VIA
Green Green List (high evidence)
GGCX
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Pseudoxanthoma elasticum like disorder with multiple coagulation factor deficiency, 610842
Tags
  • pharmacogenetics
Green Green List (high evidence)
GORAB
4 reviews
2 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Other
Phenotypes
  • Geroderma osteodysplasticum, 231070
Green Green List (high evidence)
LOX
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
  • Other
Phenotypes
  • Aortic aneurysm, familial thoracic 10, 617168
Green Green List (high evidence)
LTBP4
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cutis laxa, autosomal recessive, type IC, 613177
Green Green List (high evidence)
PLOD1
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Emory Genetics Laboratory
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Ehlers-Danlos Syndrome, Kyphoscoliotic Form
  • Ehlers Danlos syndrome, type VI, 225400
  • Kyphoscoliotic EDS
  • kEDS-PLOD1
  • Ocular-Scoliotic EDS
Green Green List (high evidence)
PRDM5
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Brittle cornea syndrome 2, 614170
  • BCS
  • EDSVIB
  • Connective Tissue Disorders
  • Ehlers-Danlos syndrome type VIB
  • Brittle cornea syndrome
Green Green List (high evidence)
PYCR1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Cutis laxa, autosomal recessive, type IIIB, 614438
  • Cutis laxa, autosomal recessive, type IIB, 612940
Green Green List (high evidence)
RIN2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075
  • RIN2 syndrome
  • MACS syndrome
Green Green List (high evidence)
ROBO3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313
Green Green List (high evidence)
SKI
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Shprintzen-Goldberg syndrome, 182212
Green Green List (high evidence)
SLC39A13
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, 612350
  • Spondylodysplastic EDS
  • spEDS-SLC39A13
  • Ehlers-Danlos Syndrome, Spondylodysplastic Type
Green Green List (high evidence)
SMAD2
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Loeys-Dietz syndrome
  • LDS3
  • arterial aneurysms and dissections
Green Green List (high evidence)
SMAD3
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Loeys-Dietz syndrome 3, 613795
Green Green List (high evidence)
SMAD4
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Expert list
Phenotypes
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050
Green Green List (high evidence)
TGFB2
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Loeys-Dietz syndrome 4, 614816
Green Green List (high evidence)
TGFB3
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Loeys-Dietz syndrome 5, 615582
Green Green List (high evidence)
TGFBR1
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Loeys-Dietz syndrome 1, 609192
Green Green List (high evidence)
TGFBR2
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Expert list
Phenotypes
  • Loeys-Dietz syndrome 2, 610168
Green Green List (high evidence)
TNXB
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ehlers-Danlos syndrome due to tenascin X deficiency, 606408
  • Classical-like EDS
  • clEDS
  • Ehlers-Danlos syndrome, classic-like type
Green Green List (high evidence)
ZNF469
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Brittle cornea syndrome 1, 229200
  • BCS
  • EDSVIB
  • Connective Tissue Disorders
  • Ehlers-Danlos syndrome type VIB
  • Brittle cornea syndrome
Amber Amber List (moderate evidence)
ACTA2
4 reviews
2 green
Not set
Sources
  • Expert Review Amber
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Thoracic aortic aneurysm and dissection
  • Aortic aneurysm, familial thoracic 6
  • 611788
  • Moyamoya disease 5
  • 614042
  • Thoracic aneurysms congenital mydriasis
  • moya moya syndrome
Amber Amber List (moderate evidence)
DCC
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542
Tags
  • watchlist
  • structural-variant
Amber Amber List (moderate evidence)
MYLK
4 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
  • Expert list
Phenotypes
  • Aortic aneurysm, familial thoracic 7, 613780
  • FTAA
  • Familial thoracic aortic aneurysm
Amber Amber List (moderate evidence)
NOTCH1
4 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Connective Tissue Disorders
  • Aortic valve disease 1, 109730
  • Familial thoracic aortic aneurysm
Amber Amber List (moderate evidence)
PIEZO2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Marden-Walker syndrome, 248700
  • Connective tissue disorder
Red Red List (low evidence)
ACVR1
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Connective Tissue Disorders
Red Red List (low evidence)
COX7B
2 reviews
2 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Aplasia cutis congenita, reticulolinear, with mmicrocephaly, facial dysmorphism and other congenital anomalies, 300887
Red Red List (low evidence)
FLCN
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Pneumothorax, primary spontaneous, 173600
  • Connective Tissue Disorders
Red Red List (low evidence)
FLNA
4 reviews
2 green 2 red
Not set
Sources
  • Expert list
  • Emory Genetics Laboratory
Red Red List (low evidence)
MYH11
4 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Aortic aneurysm, familial thoracic 4, 132900
Red Red List (low evidence)
PLOD3
3 reviews
3 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Phenotypes
  • Lysyl hydroxylase 3 deficiency, 612394
Red Red List (low evidence)
SLC2A10
4 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Arterial tortuosity syndrome, 208050
  • Connective Tissue Disorders, Cutis laxa
Red Red List (low evidence)
TPSAB1
1 review
1 red
Unknown
Sources
  • Expert Review
  • Literature
Phenotypes
  • ?Mast cell dysfunction (with joint hypermobility)
No list No list
MED12
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Removed
  • Emory Genetics Laboratory
Phenotypes
  • Lujan-Fryns syndrome, 309520
  • Ohdo syndrome, X-linked, 300895
  • Opitz-Kaveggia syndrome, 305450
No list No list
PKD2
1 review
Not set
Sources
  • Expert Review Removed
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Polycystic kidney disease 2, 613095
  • Connective Tissue Disorders
No list No list
SERPINA1
1 review
Not set
Sources
  • Expert Review Removed
  • Emory Genetics Laboratory
No list No list
TSC1
1 review
Not set
Sources
  • Expert Review Removed
  • Emory Genetics Laboratory
No list No list
TSC2
1 review
Not set
Sources
  • Expert Review Removed
  • Emory Genetics Laboratory
Phenotypes
  • cutis laxa (Conditions which present with lung cystic lesions include alpha-1-antitrypsin deficiency, Birt-Hogg-Dube syndrome, tuberous sclerosis, complex-associated lymphangioleiomyomatosis (LAM), cutis laxa, and emphysema)

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