Genomics Precision Diagnostic > Rare Disease Precision Panel > Stickler Syndrome Precision Panel

Stickler Syndrome Precision Panel – 63 genes

Stickler Syndrome (SS), also known as hereditary arthroophthalmopathy belongs to the group of connective tissue disorders together with Marshall syndrome, and so have overlapping characteristics.

Overview

Indication

Clinical Utility

Genes & Diseases

Methodology

References

Overview

Stickler Syndrome (SS), also known as hereditary arthroophthalmopathy belongs to the group of connective tissue disorders together with Marshall syndrome, and so have overlapping characteristics. It is caused by mutations of genes in charge of the assembly of collagen. Since collagen is a major component of cartilage, vitreous and nucleus pulposus the clinical manifestations will affect these structures. Affected individuals are at significantly increased risk for retinal detachment and blindness, and early detection and diagnosis are critical in improving visual outcomes of these patients. The mode of inheritance varies from autosomal dominant, recessive and X-linked.
The Igenomix Stickler Syndrome Precision Panel can be used to make a directed and accurate diagnosis 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 Stickler Syndrome Precision Panel is indicated for those patients with a clinical diagnosis or suspicion with or without the following manifestations:
- Orofacial abnormalities: midfacial underdevelopment and cleft palate
- Ophthalmologic abnormalities: myopia, cataract, retinal detachment
- Hearing loss
- Precocious arthritis

Clinical Utility

The clinical utility of this panel is:

The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
Early initiation of treatment with a multidisciplinary team in the form of surgical repair of orofacial abnormalities, retinal detachment, hearing and visual aids and symptomatic medical treatment for arthropathy. Early and continuous ophthalmologic examination follow-up to prevent further complications.
Risk assessment 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**
*ACTA2*	Aortic Aneurysm, Moyamoya Disease, Multisystemic Smooth Muscle Dysfunction Syndrome	AD	100	88 of 88
*ADAMTS2*	Ehlers-Danlos Syndrome	AR	95.99	9 of 10
*AEBP1*	Ehlers-Danlos Syndrome	AR	99.35	9 of 9
*ALDH18A1*	Cutis Laxa, Corneal Clouding, Mental Retardation, Spastic Paraplegia, De Barsy Syndrome	AD,AR	100	39 of 40
*ATP6V0A2*	Cutis Laxa, Wrinkly Skin Syndrome	AR	99.99	55 of 55
*ATP6V1E1*	Cutis Laxa	AR	100	2 of 2
*ATP7A*	Cutis Laxa, Menkes Disease, Spinal Muscular Atrophy, Occipital Horn Syndrome	X,XR,G	99.83	–
*B3GALT6*	Ehlers-Danlos Syndrome, Spondyloe- pimetaphyseal Dysplasia, Joint Laxity	AR	65.09	24 of 39
*B3GAT3*	Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism	AR	99.86	15 of 15
*B4GALT7*	Ehlers-Danlos Syndrome	AR	99.92	11 of 11
*BGN*	Meester-Loeys Syndrome, Spondylo- epimetaphyseal Dysplasia	X,XR,G	99.87	–
*CBS*	Homocystinuria	AR	99.98	192 of 194
*CHST14*	Ehlers-Danlos Syndrome	AR	97.7	21 of 22
*COL11A1*	Deafness, Fibrochondrogenesis, Marshall Syndrome, Stickler Syndrome, Myopia, Midfacial Retrusion, Sensorineural Hearing Loss, Rhizomelic Dysplasia	AD,AR	100	104 of 106
*COL11A2*	Deafness, Fibrochondrogenesis, Otospondylo- megaepiphyseal Dysplasia, Stickler Syndrome	AD,AR	99.98	58 of 58
*COL12A1*	Bethlem Myopathy, Ullrich Congenital Muscular Dystrophy, Ehlers-Danlos Syndrome	AD	99.97	18 of 19
*COL1A1*	Caffey Disease, Ehlers-Danlos Syndrome, Osteogenesis Imperfecta, Osteoporosis, Dermatofibrosarcoma Protuberans	AD	99.98	1156 of 1159
*COL1A2*	Ehlers-Danlos Syndrome, Osteogenesis Imperfecta, Osteoporosis	AD,AR	100	576 of 581
*COL2A1*	Achondrogenesis, Avascular Necrosis Of Femoral Head, Czech Dysplasia, Epiphyseal Dysplasia, Kniest Dysplasia, Legg-Calve- Perthes Disease, Osteoarthritis, Stickler Syndrome, Dysspondylo- enchondromatosis, Platyspondylic Dysplasia, Spondylo- epimetaphyseal Dysplasia	AD,MU	100	583 of 583
*COL3A1*	Ehlers-Danlos Syndrome, Polymicrogyria, Acrogeria, Cerebral Saccular Aneurysm	AD,AR	100	676 of 676
*COL4A1*	Angiopathy, Nephropathy, Aneurysms, Microangiopathy, Leukoen- cephalopathy, Porencephaly, Hanac Syndrome, Walker-Warburg Syndrome	AD	99.99	173 of 173
*COL5A1*	Ehlers-Danlos Syndrome	AD	99.08	191 of 195
*COL5A2*	Ehlers-Danlos Syndrome	AD	100	45 of 45
*COL9A1*	Epiphyseal Dysplasia, Stickler Syndrome	AD,AR	99.98	8 of 8
*COL9A2*	Epiphyseal Dysplasia, Stickler Syndrome	AD,AR	100	16 of 16
*COL9A3*	Epiphyseal Dysplasia, Stickler Syndrome	AD	99.98	20 of 20
*DSE*	Ehlers-Danlos Syndrome	AR	99.94	3 of 3
*EFEMP2*	Cutis Laxa	AR	99.99	17 of 17
*ELN*	Cutis Laxa, Supravalvular Aortic Stenosis, Williams- Beuren Syndrome, Thoracic Aortic Aneurysm	AD	99.99	95 of 96
*FBLN5*	Cutis Laxa, Neuropathy, Macular Degeneration	AD,AR	97.43	23 of 23
*FBN1*	Acromicric Dysplasia, Ectopia Lentis, Geleophysic Dysplasia, Marfan Syndrome, Mass Syndrome, Stiff Skin Syndrome, Weill-Marchesani Syndrome, Thoracic Aortic Aneurysm, Shprintzen– Goldberg Syndrome	AD	100	2836 of 2845
*FBN2*	Contractural Arachnodactyly, Macular Degeneration	AD	100	115 of 115
*FKBP14*	Ehlers-Danlos Syndrome, Myopathy, Hearing Loss	AR	99.98	7 of 8
*FLNA*	Cardiac Valvular Dysplasia, Fg Syndrome, Frontometaphyseal Dysplasia, Heterotopia, Intestinal Pseudoobstruction, Melnick-Needles Syndrome, Otopalatodigital Syndrome, Terminal Osseous Dysplasia, Congenital Short Bowel Syndrome, Ehlers-Danlos Syndrome	X,XR,XD,G	100	–
*LOX*	Aortic Aneurysm	AD	95.47	8 of 8
*LOXL3*	Stickler Syndrome	–	99.97	7 of 7
*LRP2*	Donnai-Barrow Syndrome	AR	99.99	58 of 58
*LTBP4*	Cutis Laxa, Duchenne Muscular Dystrophy	AR	97.45	27 of 27
*MAT2A*	Thoracic Aortic Aneurysm, Aortic Dissection	–	100	3 of 3
*MED12*	Lujan- Fryns Syndrome, Ohdo Syndrome, Opitz-Kaveggia Syndrome, Blepharophimosis, Intellectual Disability Syndrome, Fg Syndrome	X,XR,G	100	–
*MFAP5*	Thoracic Aortic Aneurysm, Aortic Dissection	AD	100	3 of 3
*MYH11*	Thoracic Aortic Aneurysm, Aortic Dissection, Megacystis, Microcolon, Intestinal Hypoperistalsis	AD	100	67 of 67
*MYLK*	Thoracic Aortic Aneurysm, Aortic Dissection, Megacystis, Microcolon, Intestinal Hypoperistalsis	AD	99.95	50 of 50
*NOTCH1*	Adams-Oliver Syndrome, Aortic Valve Disease	AD	99.83	178 of 179
*PLOD1*	Ehlers-Danlos Syndrome	AR	100	36 of 36
*PRDM5*	Brittle Cornea Syndrome	AR	99.86	13 of 13
*PRKG1*	Thoracic Aortic Aneurysm, Aortic Dissection	AD	99.93	6 of 6
*PYCR1*	Cutis Laxa, Geroderma Osteodysplastica	AR	100	44 of 44
*RIN2*	Macrocephaly, Alopecia, Cutis Laxa, Scoliosis, Rin2 Syndrome	AR	99.6	4 of 4
*SKI*	1p36 Deletion Syndrome, Shprintzen– Goldberg Syndrome	AD	99.66	39 of 39
*SLC2A10*	Arterial Tortuosity Syndrome	AR	100	35 of 35
*SLC39A13*	Ehlers- Danlos Syndrome	AR	100	9 of 9
*SMAD2*	Osteopoikilosis	–	100	19 of 19
*SMAD3*	Loeys-Dietz Syndrome, Aneurysm- Osteoarthritis Syndrome, Thoracic Aortic Aneurysm, Aortic Dissection	AD	100	128 of 128
*SMAD4*	Polyposis Syndrome, Hemorrhagic Telangiectasia, Myhre Syndrome, Pancreatic Cancer, Thoracic Aortic Aneurysm, Aortic Dissection	AD	99.56	136 of 136
*TAB2*	Congenital Heart Defects, Polyvalvular Heart Disease Syndrome	AD	99	13 of 13
*TGFB2*	Loeys-Dietz Syndrome, Thoracic Aortic Aneurysm, Aortic Dissection	AD	99.9	41 of 44
*TGFB3*	Right Ventricular Dysplasia, Loeys-Dietz Syndrome, Thoracic Aortic Aneurysm, Aortic Dissection	AD	100	34 of 35
*TGFBR1*	Loeys-Dietz Syndrome, Self-Healing Squamous Epithelioma, Thoracic Aortic Aneurysm, Aortic Dissection	AD	94	96 of 100
*TGFBR2*	Colorectal Cancer, Esophageal Cancer, Loeys-Dietz Syndrome, Familial Thoracic Aortic Aneurysm, Aortic Dissection, Lynch Syndrome	AD	99.9	165 of 166
*TNXB*	Vesicoureteral Reflux, Ehlers-Danlos Syndrome	AD,AR	92.75	29 of 33
*VCAN*	Wagner Syndrome	AD	99.91	11 of 21
*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

References

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