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 'R101 Ehlers Danlos syndrome with a likely monogenic cause' 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 'R101 Ehlers Danlos syndrome with a likely monogenic cause'.

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

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

13 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

  • 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

  • Angela Brady (Nhs)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Anna de Burca (Genomics England Curator)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Duncan Baker (Sheffield Genetics)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

75 Entities

75 reviewed, 57 green

List Entity Reviews Mode of inheritance Details
75 Entitiess
Green Green List (high evidence)
ABCC6
3 reviews
1 green 1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Pseudoxanthoma elasticum, AR
  • 264800
  • Pseudoxanthoma elasticum, forme fruste, AD
  • 177850
Tags
Green Green List (high evidence)
ADAMTS2
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ehlers Danlos syndrome, type VIIC, 225410
  • Ehlers-Danlos Syndrome, Dermatosparaxis Type
  • Dermatosparaxis EDS
  • dEDS
  • EDSVIIC
  • EDS7C
Tags
Green Green List (high evidence)
AEBP1
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Ehlers-Danlos syndrome type
  • EDS type
  • Part of the EDS spectrum
Tags
Green Green List (high evidence)
ALDH18A1
5 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cutis laxa, autosomal recessive, type IIIA, 219150
  • Cutis laxa, autosomal dominant 3, 616603
Tags
Green Green List (high evidence)
ATP6V0A2
6 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cutis laxa, autosomal recessive, type IIA, 219200
  • Wrinkly skin syndrome, 278250
Tags
Green Green List (high evidence)
ATP6V1A
6 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cutis laxa, autosomal recessive, type IID, 617403
Tags
Green Green List (high evidence)
ATP7A
5 reviews
4 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
  • NHS GMS
Phenotypes
  • Menkes disease, 309400
  • Occipital horn syndrome, 304150
  • Connective Tissues Disorders
  • Cutis laxa
Tags
Green Green List (high evidence)
B3GALT6
6 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
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
Tags
Green Green List (high evidence)
B4GALT7
6 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • NHS GMS
  • 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
Tags
Green Green List (high evidence)
BGN
5 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
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Meester-Loeys syndrome, 300989
Tags
Green Green List (high evidence)
C1R
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
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
Tags
Green Green List (high evidence)
C1S
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Ehlers-Danlos syndrome periodontal type 2, 617174
  • Periodontal Ehlers-Danlos syndrome
  • Periodontal EDS
  • pEDS
  • EDS type VIII
Tags
Green Green List (high evidence)
CHST14
8 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review
  • Expert Review Green
  • Expert list
  • Literature
  • NHS GMS
  • 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
Tags
Green Green List (high evidence)
COL11A1
5 reviews
2 green 1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Stickler syndrome, type II, 604841
  • Connective Tissue Disorders
  • Marshall syndrome, 154780
  • Fibrochondrogenesis, 228520
Tags
Green Green List (high evidence)
COL11A2
5 reviews
2 green 1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Stickler syndrome, type III, (AD),184840
  • Otospondylomegaepiphyseal dysplasia,(AR) 215150
  • Weissenbacher-Zweymuller syndrome, (AD), 277610
  • Fibrochondrogenesis 2, (AR,AD), 614524
  • Connective Tissue Disorders
  • autosomal dominant otospondylomegaepiphyseal dysplasia OMIM 184840
  • autosomal recessive otospondylomegaepiphyseal dysplasia OMIM 215150
Tags
Green Green List (high evidence)
COL12A1
5 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Myopathic EDS
  • mEDS
  • EDS/Myopathy overlap syndrome
  • Ehlers-Danlos syndrome, Myopathic type
Tags
Green Green List (high evidence)
COL1A1
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ehlers-Danlos syndrome, classic type, 130000
  • Classical EDS (rare)
  • cEDS
  • Ehlers-Danlos syndrome, type VIIA, 130060
  • Arthrochalasia EDS
  • aEDS
  • Vascular EDS (rare)
  • vEDS
Tags
Green Green List (high evidence)
COL1A2
5 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
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
Tags
Green Green List (high evidence)
COL2A1
5 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
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
Tags
Green Green List (high evidence)
COL3A1
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ehlers Danlos syndrome, type IV, 130050
  • Vascular EDS
  • vEDS
  • Ehlers-Danlos Syndrome, Vascular Type
  • Sack-Barabas syndrome
Tags
Green Green List (high evidence)
COL5A1
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
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • 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
Tags
Green Green List (high evidence)
COL5A2
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
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • 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
Tags
Green Green List (high evidence)
COL6A1
5 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Bethlem myopathy 1,158810
  • Ullrich congenital muscular dystrophy 1,254090
  • Myopathic EDS
Tags
Green Green List (high evidence)
COL6A2
5 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Bethlem myopathy 1,158810
  • Ullrich congenital muscular dystrophy 1,254090
  • Myopathic EDS
Tags
Green Green List (high evidence)
COL6A3
5 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Bethlem myopathy 1,158810
  • Ullrich congenital muscular dystrophy 1,254090
  • Myopathic EDS
Tags
Green Green List (high evidence)
COL9A3
5 reviews
2 green 1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • NHS GMS
Phenotypes
  • Stickler syndrome VI
  • Connective Tissue Disorders
  • Epiphyseal dysplasia, multiple, 3, with or without myopathy, 600969
  • Multiple epiphyseal dysplasia
Tags
Green Green List (high evidence)
DSE
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
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
6 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cutis laxa, autosomal recessive, type IB, 614437
Tags
Green Green List (high evidence)
ELN
6 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cutis laxa, AD, 123700
Tags
Green Green List (high evidence)
FBLN5
6 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cutis laxa, autosomal dominant 2, 614434
  • Cutis laxa, autosomal recessive, type IA, 219100
Tags
Green Green List (high evidence)
FBN1
6 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • NHS GMS
Phenotypes
  • Marfan syndrome,154700
Tags
Green Green List (high evidence)
FBN2
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Contractural arachnodactyly, congenital, 121050
Tags
Green Green List (high evidence)
FKBP14
8 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • NHS GMS
  • Other
  • Radboud University Medical Center, Nijmegen
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
  • Ehlers-Danlos syndrome, kyphoscoliotic type, 2, 614557
Tags
Green Green List (high evidence)
GGCX
5 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Pseudoxanthoma elasticum like disorder with multiple coagulation factor deficiency, 610842
Tags
  • pharmacogenetics
Green Green List (high evidence)
GORAB
6 reviews
3 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Geroderma osteodysplasticum, 231070
Tags
Green Green List (high evidence)
LOX
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Aortic aneurysm, familial thoracic 10, 617168
Tags
Green Green List (high evidence)
LTBP4
6 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cutis laxa, autosomal recessive, type IC, 613177
Tags
Green Green List (high evidence)
PLOD1
7 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ehlers-Danlos Syndrome, Kyphoscoliotic Form
  • Ehlers Danlos syndrome, type VI, 225400
  • Kyphoscoliotic EDS
  • kEDS-PLOD1
  • Ocular-Scoliotic EDS
Tags
Green Green List (high evidence)
PRDM5
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Brittle cornea syndrome 2, 614170
  • BCS
  • EDSVIB
  • Connective Tissue Disorders
  • Ehlers-Danlos syndrome type VIB
  • Brittle cornea syndrome
Tags
Green Green List (high evidence)
PYCR1
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cutis laxa, autosomal recessive, type IIIB, 614438
  • Cutis laxa, autosomal recessive, type IIB, 612940
Tags
Green Green List (high evidence)
RIN2
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075
  • RIN2 syndrome
  • MACS syndrome
Tags
Green Green List (high evidence)
ROBO3
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313
Tags
Green Green List (high evidence)
SKI
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Shprintzen-Goldberg syndrome, 182212
Tags
Green Green List (high evidence)
SLC39A13
6 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, 612350
  • Spondylodysplastic EDS
  • spEDS-SLC39A13
  • Ehlers-Danlos Syndrome, Spondylodysplastic Type
Tags
Green Green List (high evidence)
SMAD2
4 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Loeys-Dietz syndrome
  • LDS3
  • arterial aneurysms and dissections
Tags
Green Green List (high evidence)
SMAD3
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
Phenotypes
  • Loeys-Dietz syndrome 3, 613795
Tags
Green Green List (high evidence)
SMAD4
5 reviews
3 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050
  • juvenile polyposis syndrome (JP) and hereditary hemorrhagic telangiectasia (HHT)
  • ~20% with connective tissue features.
Tags
Green Green List (high evidence)
TGFB2
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • NHS GMS
Phenotypes
  • Loeys-Dietz syndrome 4, 614816
Tags
Green Green List (high evidence)
TGFB3
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Loeys-Dietz syndrome 5, 615582
Tags
Green Green List (high evidence)
TGFBR1
6 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
Phenotypes
  • Loeys-Dietz syndrome 1, 609192
Tags
Green Green List (high evidence)
TGFBR2
7 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
Phenotypes
  • Loeys-Dietz syndrome 2, 610168
Tags
Green Green List (high evidence)
TNXB
6 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • NHS GMS
  • 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
Tags
Green Green List (high evidence)
ZNF469
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Brittle cornea syndrome 1, 229200
  • BCS
  • EDSVIB
  • Connective Tissue Disorders
  • Ehlers-Danlos syndrome type VIB
  • Brittle cornea syndrome
Tags
Green Green List (high evidence)
ABL1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital heart defects and skeletal malformations syndrome, 617602
Tags
  • missense
Green Green List (high evidence)
CBS
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • UKGTN
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)
COL9A1
5 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Stickler syndrome, type IV, 614134
  • ?Epiphyseal dysplasia, multiple, 6, 614135
  • Connective Tissue Disorders
  • ocular, auditory, skeletal, and orofacial abnormalities.Most forms of Stickler syndrome are characterized by the eye findings of high myopia, vitreoretinal degeneration, retinal detachment, and cataracts.
Tags
Green Green List (high evidence)
COL9A2
5 reviews
2 green 1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Stickler syndrome, type V, (AR), 614284
  • Epiphyseal dysplasia, multiple, 2, (AD), 600204
  • Connective Tissue Disorders
  • Sticklers high myopia, vitreoretinal degeneration, retinal detachment, and mild to moderate sensorineural hearing loss. Multiple epiphyseal dysplasia characterized by joint pain and stiffness, mild short stature, and degenerative joint disease.
Tags
Amber Amber List (moderate evidence)
ACTA2
4 reviews
2 green
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
  • Expert list
Phenotypes
  • Thoracic aortic aneurysm and dissection
  • Aortic aneurysm, familial thoracic 6
  • 611788
  • Moyamoya disease 5
  • 614042
  • Thoracic aneurysms congenital mydriasis
  • moya moya syndrome
Tags
Amber Amber List (moderate evidence)
DCC
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542
Tags
  • structural-variant
  • watchlist
Amber Amber List (moderate evidence)
MYLK
6 reviews
3 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
  • Expert list
  • NHS GMS
Phenotypes
  • Aortic aneurysm, familial thoracic 7, 613780
  • FTAA
  • Familial thoracic aortic aneurysm
  • aortic dissection with or without aortic aneurysm
Tags
Amber Amber List (moderate evidence)
NOTCH1
6 reviews
2 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
  • Expert list
  • NHS GMS
Phenotypes
  • Connective Tissue Disorders
  • Aortic valve disease 1, 109730
  • Familial thoracic aortic aneurysm
  • Bicuspid, or bicommissural, aortic valve (BAV)
Tags
Amber Amber List (moderate evidence)
PIEZO2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Marden-Walker syndrome, 248700
  • Connective tissue disorder
Tags
Red Red List (low evidence)
ACVR1
2 reviews
2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Connective Tissue Disorders
Tags
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
Tags
Red Red List (low evidence)
FLCN
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Pneumothorax, primary spontaneous, 173600
  • Connective Tissue Disorders
Tags
Red Red List (low evidence)
FLNA
4 reviews
2 green 2 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert list
Tags
Red Red List (low evidence)
MYH11
4 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Aortic aneurysm, familial thoracic 4, 132900
Tags
Red Red List (low evidence)
PLOD3
3 reviews
3 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Phenotypes
  • Lysyl hydroxylase 3 deficiency, 612394
Tags
Red Red List (low evidence)
SLC2A10
4 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Arterial tortuosity syndrome, 208050
  • Connective Tissue Disorders, Cutis laxa
Tags
Red Red List (low evidence)
TPSAB1
1 review
1 red
Unknown
Sources
  • Expert Review
  • Literature
Phenotypes
  • ?Mast cell dysfunction (with joint hypermobility)
Tags
No list No list
MED12
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Phenotypes
  • Lujan-Fryns syndrome, 309520
  • Ohdo syndrome, X-linked, 300895
  • Opitz-Kaveggia syndrome, 305450
Tags
No list No list
PKD2
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • Expert list
Phenotypes
  • Polycystic kidney disease 2, 613095
  • Connective Tissue Disorders
Tags
No list No list
SERPINA1
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Tags
No list No list
TSC1
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
Tags
No list No list
TSC2
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
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)
Tags

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