Genomics Precision Diagnostic > Connective Tissue Disorder > Ehlers-Danlos Syndrome Precision Panel

Ehlers-Danlos Syndrome Precision Panel – 70 genes

Ehlers-Danlos Syndromes (EDS) are a clinically and genetically heterogeneous group of connective-tissue disorders, where the genetic defect affects collagen and connective-tissue synthesis and structure. It is characterized by hypermobility, cutaneous fragility and hyperextensibility.

Overview

Indication

Clinical Utility

Genes & Diseases

Methodology

References

Overview

Ehlers-Danlos Syndromes (EDS) are a clinically and genetically heterogeneous group of connective-tissue disorders, where the genetic defect affects collagen and connective-tissue synthesis and structure. It is characterized by hypermobility, cutaneous fragility and hyperextensibility. Since the connective tissue is the tissue that helps body growth as well as serving as a scaffold for cells and organs, Ehlers-Danlos is a pleiotropic syndrome affecting the skin, joints and blood vessels. It has been classically divided into six types (classical, hypermobile, vascular, kyphoscoliotic, arthrochalasis and dermatosparaxis), where the underlying collagen abnormality is different for each type. In some cases, EDS can be life threatening, whereas in others, individuals live a relatively uneventful life. EDS can have phenotypic overlap with conditions such as Marfan disease and cutis laxa.
The Igenomix Ehlers-Danlos Syndrome Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of connective tissue disorders due to their overlapping phenotypic features ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.

Indication

The Igenomix Ehlers-Danlos Syndrome Precision Panel is indicated for those patients with a clinical suspicion or diagnosis of EDS presenting with:
- Skin hyperextensibility
- Joint Hypermobility
- Easy bruising
- Retinal detachment
- Mitral valve prolapse
- Hernias and organ prolapse
- Skeletal abnormalities: pectus excavatum, high arched palate, pes planus
- Digestive problems: heartburn and constipation
- Urinary stress incontinence

Clinical Utility

The clinical utility of this panel is:

The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient. Clinical overlap exists between different EDS subtypes, as well as with other heritable connective tissue disorders, therefore the diagnosis relies on molecular confirmation with genetic identification of causative genes.
Early initiation of treatment with a multidisciplinary team in the form of physical therapy and surveillance to prevent vascular complications.
Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
Improvement of delineation of genotype-phenotype correlation.

Genes & Diseases

See all genes and diseases

GENE	OMIM DISEASES	INHERITANCE*	% GENE COVERAGE (20X)	HGMD**
*ABCC6*	Generalized Arterial Calcification Of Infancy, Pseudoxanthoma Elasticum	AD,AR	99	346 of 349
*ABL1*	Congenital Heart Defects And Skeletal Malformations Syndrome	AD	99.93	8 of 8
*ACTA2*	Familial Thoracic Aortic Aneurysm, Moyamoya Disease, Multisystemic Smooth Muscle Dysfunction Syndrome, Familial Thoracic Aortic Aneurysm And Aortic Dissection	AD	100	88 of 88
*ADAMTS2*	Autosomal Recessive Ehlers-Danlos Syndrome Type VII, Dermatosparaxis Ehlers-Danlos Syndrome	AR	95.99	9 of 10
*ADAMTSL2*	Geleophysic Dysplasia	AR	49.32	18 of 30
*AEBP1*	Classic-Like Ehlers-Danlos Syndrome Type 2	AR	99.35	9 of 9
*ALDH18A1*	Autosomal Dominant Cutis Laxa, Corneal Clouding Cutis Laxa And Mental Retardation, Autosomal Dominant Spastic Paraplegia, Aldh18a1-Related De Barsy Syndrome	AD,AR	100	39 of 40
*ATP6AP1*	Immunodeficiency	X,XR,G	99.2	NA of NA
*ATP6V0A2*	Autosomal Recessive Cutis Laxa Type II, Wrinkly Skin Syndrome	AR	99.99	55 of 55
*ATP6V1A*	Autosomal Recessive Cutis Laxa Type IId, Undetermined Early- Onset Epileptic Encephalopathy	AD,AR	99.98	9 of 9
*ATP6V1E1*	Autosomal Recessive Cutis Laxa, Type IIc	AR	100	2 of 2
*ATP7A*	Cutis Laxa X-linked, Menkes Disease, Distal X-linked Spinal Muscular Atrophy, Occipital Horn Syndrome	X,XR,G	99.83	NA of NA
*B3GALT6*	Ehlers-Danlos Syndrome, Spondyloepimetaphyseal Dysplasia With Joint Laxity	AR	65.09	24 of 39
*B3GAT3*	Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, With Or Without Congenital Heart Defects	AR	99.86	15 of 15
*B4GALT7*	Ehlers-Danlos Syndrome Spondylodysplastic Type 1, B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	AR	99.92	11 of 11
*BGN*	Meester-Loeys Syndrome, X-linked Spondyloepimetaphyseal Dysplasia	X,XR,G	99.87	NA of NA
*C1R*	Periodontal Ehlers- Danlos Syndrome	AD	98.89	16 of 16
*C1S*	Periodontal Ehlers- Danlos Syndrome	AD	100	12 of 12
*CBS*	Homocystinuria Due To Cystathionine Beta-Synthase Deficiency, Classic Homocystinuria	AR	99.98	192 of 194
*CHST14*	Ehlers-Danlos Syndrome, Musculocontractural Type, Musculocontractural Ehlers-Danlos Syndrome	AR	97.7	21 of 22
*CHST3*	Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, With Or Without Congenital Heart Defects, Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations, Chst3-Related Skeletal Dysplasia	AR	99.97	38 of 38
*COL11A1*	Fibrochondrogenesis, Marshall Syndrome, Stickler Syndrome Type II	AD,AR	100	104 of 106
*COL12A1*	Bethlem Myopathy, Ullrich Congenital Muscular Dystrophy, Myopathic Ehlers-Danlos Syndrome	AD	99.97	18 of 19
*COL1A1*	Caffey Disease, Ehlers- Danlos Syndrome Type VII, Osteogenesis Imperfecta, Arthrochalasia Ehlers-Danlos Syndrome, Classical Ehlers-danlos Syndrome, Dermatofibrosarcoma Protuberans	AD	99.98	1156 of 1159
*COL1A2*	Ehlers-Danlos Syndrome Arthrochalasia Type 2, Ehlers-Danlos Syndrome Cardiac Valvular Form, Osteogenesis Imperfecta	AD,AR	100	576 of 581
*COL2A1*	Achondrogenesis Type II, Czech Dysplasia, Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness, Kniest Dysplasia, Osteoarthritis With Mild Chondrodysplasia, Platyspondylic Lethal Skeletal Dysplasia Spondyloepimetaphyseal Dysplasia, Stickler Syndrome, Autosomal Dominant Otospondylomegaepiphyseal Dysplasia, Dysspondyloenchondromatosis, Multiple Epiphyseal Dysplasia	AD,MU	100	583 of 583
*COL3A1*	Ehlers-Danlos Syndrome Type IV, Polymicrogyria With Or Without Vascular-Type Ehlers- Danlos Syndrome, Vascular Ehlers-Danlos Syndrome	AD,AR	100	676 of 676
*COL5A1*	Ehlers-Danlos Syndrome Classic Type 2, Ehlers-Danlos Syndrome Type 1	AD	99.08	191 of 195
*COL5A2*	Ehlers-Danlos Syndrome Classic Type 2	AD	100	45 of 45
*COL6A1*	Bethlem Myopathy, Ullrich Congenital Muscular Dystrophy	AD,AR	99.96	182 of 186
*COL6A2*	Bethlem Myopathy, Ullrich Congenital Muscular Dystrophy	AD,AR	100	223 of 225
*COL6A3*	Bethlem Myopathy, Dystonia, Ullrich Congenital Muscular Dystrophy	AD,AR	99.63	232 of 232
*CRTAP*	Osteogenesis Imperfecta Type VII	AR	99.98	29 of 30
*DCC*	Familial Horizontal Gaze Palsy With Progressive Scoliosis With Impaired Intellectual Development, Familial Congenital Mirror Movements	AD,AR	94	39 of 39
*DSE*	Musculocontractural Ehlers-Danlos Syndrome	AR	99.94	3 of 3
*EFEMP2*	Autosomal Recessive Cutis Laxa Autosomal Recessive Type Ib	AR	99.99	17 of 17
*ELN*	Autosomal Dominant Cutis Laxa, Supravalvular Aortic Stenosis, Williams-Beuren Syndrome, Familial Thoracic Aortic Aneurysm And Aortic Dissection, Williams Syndrome	AD	99.99	95 of 96
*FBLN5*	Autosomal Dominant Cutis Laxa, Autosomal Recessive Cutis Laxa Type 1	AD,AR	97.43	23 of 23
*FBN1*	Marfan Lipodystrophy Syndrome, Marfan Syndrome, Mass Syndrome, Stiff Skin Syndrome, Weill-Marchesani Syndrome, Familial Thoracic Aortic Aneurysm And Aortic Dissection, Glaucoma-Ectopia Lentis–Microspherophakia-Stiff Joints-Short Stature Syndrome, Neonatal Marfan Syndrome, Shprintzen-Goldberg Syndrome	AD	100	2836 of 2845
*FBN2*	Congenital Contractural Arachnodactyly	AD	100	115 of 115
*FKBP14*	Ehlers-Danlos Syndrome With Progressive Kyphoscoliosis, Myopathy, and Hearing Loss	AR	99.98	7 of 8
*FLNA*	Cardiac Valvular Dysplasia, X-linked, Frontometaphyseal Dysplasia, Melnick- Needles Syndrome, Otopalatodigital Syndrome Type I and Type II, Melnick-Needles Syndrome, X-linked Ehlers-Danlos Syndrome	X,XR,XD,G	100	NA of NA
*FLNB*	Atelosteogenesis, Type I, Atelosteogenesis Type III, Boomerang Dysplasia, Larsen Syndrome, Spondylocarpotarsal Synostosis Syndrome	AD,AR	100	124 of 124
*GGCX*	Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency, Combined Deficiency Of Vitamin K-Dependent Clotting Factors	AR	100	62 of 62
*GORAB*	Geroderma Osteodysplastica	AR	96	17 of 18
*LOX*	Familial Thoracic Aortic Aneurysm And Aortic Dissection	AD	95.47	8 of 8
*LTBP4*	Autosomal Recessive Cutis Laxa Type Ic, Duchenne Muscular Dystrophy	AR	97.45	27 of 27
*LZTS1*	Ehlers-Danlos Syndrome		99.73	6 of 6
*MYLK*	Familial Thoracic Aortic Aneurysm And Aortic Dissection	AD	99.95	50 of 50
*NOTCH1*	Adams-Oliver Syndrome, Familial Bicuspid Aortic Valve	AD	99.83	178 of 179
*P3H1*	Osteogenesis Imperfecta Type VIII	AR	94.6	NA of NA
*PIEZO2*	Distal Arthrogryposis Type 5 With Impaired Proprioception And Touch, Gordon Syndrome Marden-Walker Syndrome	AD,AR	96.93	37 of 37
*PLOD1*	Ehlers-Danlos Syndrome Type V	AR	100	36 of 36
*PLP1*	Pelizaeus-Merzbacher Disease, Spastic Paraplegia Type 2	X,XR,G	100	NA of NA
*PRDM5*	Brittle Cornea Syndrome	AR	99.86	13 of 13
*PYCR1*	Autosomal Recessive Cutis Laxa Type IIb, Type IIIb, Geroderma Osteodysplastica	AR	100	44 of 44
*RIN2*	Macrocephaly, Alopecia, Cutis Laxa, And Scoliosis, Rin2 Syndrome	AR	99.6	4 of 4
*ROBO3*	Horizontal Gaze Palsy With Progressive Scoliosis	AR	99.88	45 of 45
*SKI*	Shprintzen-Goldberg Craniosynostosis Syndrome	AD	99.66	39 of 39
*SLC39A13*	Slc39a13-Related Spondylodysplastic Ehlers-Danlos Syndrome	AR	100	9 of 9
*SMAD2*	Buschke-Ollendroff Syndrome, Osteopoikilosis	–	100	19 of 19
*SMAD3*	Loeys–Dietz Syndrome Type 3, Aneurysm- Osteoarthritis Syndrome, Familial Thoracic Aortic Aneurysm And Aortic Dissection	AD	100	128 of 128
*SPARC*	Osteogenesis Imperfecta Type XVII	AR	100	4 of 4
*TGFB2*	Loeys–Dietz Syndrome Type 4, Familial Thoracic Aortic Aneurysm And Aortic Dissection	AD	99.9	41 of 44
*TGFB3*	Loeys-dietz Syndrome 5; Lds5 , Familial Thoracic Aortic Aneurysm And Aortic Dissection	AD	100	34 of 35
*TGFBR1*	Loeys–Dietz Syndrome, Type 1a Loeys–Dietz Aortic Aneurysm Syndrome, Familial Thoracic Aortic Aneurysm And Aortic Dissection	AD	94	96 of 100
*TGFBR2*	Loeys–Dietz Syndrome Type 1b, Familial Thoracic Aortic Aneurysm And Aortic Dissection	AD	99.9	165 of 166
*TNFRSF1A*	Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	AD	95.77	111 of 112
*TNXB*	Classical-like Ehlers- Danlos Syndrome Type 1	AD,AR	92.75	29 of 33
*ZNF469*	Brittle Cornea Syndrome	AR	99.91	79 of 79

* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial; G: Gonosomal Inheritance; D: Digenic Inheritance

** HGMD: Number of clinically relevant mutations according to HGMD

Methodology

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