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Noonan Spectrum Disorders and RASopathies Precision Panel

Noonan Syndrome is a genetic disorder that impairs normal development of several parts of the body. The main features of Noonan Syndrome include unusual fascies (hypertelorism, down-slanting eyes, webbed neck), congenital heart disease, short stature and chest deformity.

Overview

Noonan Syndrome is a genetic disorder that impairs normal development of several parts of the body. The main features of Noonan Syndrome include unusual fascies (hypertelorism, down-slanting eyes, webbed neck), congenital heart disease, short stature and chest deformity. Mental retardation can be seen in approximately 25% of individuals affected by Noonan syndrome. Other findings present to varying degrees include skeletal, neurologic, genitourinary, lymphatic, eye and skin manifestations. Gene mutations identified in individuals with Noonan Syndrome phenotype are involved in the RAS/MAPK (mitogen-activated protein kinase) signal transduction pathway, also known as RASopathy. RASopathies are developmental syndromes caused by germline mutations in genes that alter the RAS subfamily and MAPK that control signal transduction and that present overlapping clinical features. Some of the diseases belonging to this category include Noonan syndrome, Costello syndrome, Neurofibromatosis type 1, cardio–facio–cutaneous syndrome and others. The most common mode of inheritance for these diseases is autosomal dominant.
The Igenomix Noonan Spectrum Disorders and RASopathies Precision Panel can be used to make a directed and accurate differential diagnosis of Noonan syndrome and RASopathies 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 Noonan Spectrum Disorders and RASopathies Precision Panel is indicated for those patients with a clinical diagnosis presenting with the following manifestations:
- Facial features: triangular-shaped face, hypertelorism, down-slanting palpebral fissures, ptosis, low set ears etc
- Ocular abnormalities: amblyopia, myopia, astigmatism, strabismus etc
- Sensorineural hearing loss
- Pectus carinatum or excavatum
- Cardiac abnormalities: pulmonary stenosis, hypertrophic cardiomyopathy
- Skeletal features: joint laxity, short stature etc
- Skin abnormalities
- Genitourinary abnormalities

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 to perform appropriate medical care, early surveillance of malignancy and surgical repair of anatomic abnormalities.
Risk assessment of asymptomatic family members according to the mode of inheritance.
Improvement of delineation of genotype-phenotype correlation.

Genes & Diseases

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GENE	OMIM DISEASES	INHERITANCE*	% GENE COVERAGE (20X)	HGMD**
*A2ML1*	Noonan Syndrome	AD,MU,P	100	23 of 23
*ACTB*	Baraitser-Winter Syndrome, Developmental Malformations- Deafness-Dystonia Syndrome	AD	100	40 of 40
*ACTG1*	Baraitser-Winter Syndrome	AD	98.59	55 of 55
*BRAF*	Cardiofaciocutaneous Syndrome, Leopard Syndrome, Noonan Syndrome, Cardiofaciocutaneous Syndrome	AD	100	80 of 80
*CBL*	Noonan Syndrome-like Disorder With Or Without Juvenile Myelomonocytic Leukemia	AD	100	46 of 47
*CCNK*	Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies	AD	96.69	1 of 1
*CDC42*	Takenouchi-Kosaki Syndrome, Macrothrombocytopenia- Lymphedema-Developmental Delay-Facial Dysmorphism- Camptodactyly Syndrome	AD	99.97	10 of 10
*EPHB4*	Nonimmune Hydrops Fetalis And/Or Atrial Septal Defect	AD	100	65 of 65
*FGD1*	Aarskog-Scott Syndrome	X,XR,G	98.95	NA of NA
*HRAS*	Costello Syndrome, Schimmelpenning-Feuerstein- Mims Syndrome, Linear Nevus Sebaceus Syndrome	AD	100	34 of 34
*KAT6B*	Genitopatellar Syndrome, Ohdo Syndrome, Blepharophimosis-Intellectual Disability Syndrome	AD	99.97	80 of 80
*KRAS*	Aplasia Cutis Congenita With Epibulbar Dermoids , Cardiofaciocutaneous Syndrome, Noonan Syndrome, Ras- Associated Autoimmune Lymphoproliferative Syndrome Type IV, Schimmelpenning -Feuerstein-Mims Syndrome, Cardiofaciocutaneous Syndrome, Encephalocraniocutaneous Lipomatosis, Toriello-Lacassie -Droste Syndrome	AD	100	38 of 38
*LZTR1*	Noonan Syndrome	AD	99.99	136 of 136
*MAP2K1*	Cardiofaciocutaneous Syndrome, Noonan Syndrome	AD	100	31 of 31
*MAP2K2*	Cardiofaciocutaneous Syndrome, Neurofibromatosis-Noonan Syndrome	AD	100	37 of 37
*MAP3K8*	Susceptibility To Lung Cancer	AD	99.91	1 of 1
*MRAS*	Noonan Syndrome	AD	100	3 of 3
*NF1*	Neurofibromatosis-Noonan Syndrome, Neurofibromatosis Type I, Watson Syndrome, Deletion	AD	97.97	3082 of 3166
*NRAS*	Neurocutaneous Melanosis, Noonan Syndrome, Ras-Associated Autoimmune Lymphoproliferative Syndrome Type IV, Schimmelpenning- Feuerstein-Mims Syndrome	AD	100	15 of 15
*PPP1CB*	Noonan Syndrome-Like Disorder With Loose Anagen Hair	AD	99.87	12 of 12
*PTPN11*	Leopard Syndrome, Metachondromatosis, Noonan Syndrome	AD	100	150 of 151
*RAF1*	Cardiomyopathy Dilated Cardiomyopathy, Leopard Syndrome, Noonan Syndrome	AD	100	64 of 64
*RASA1*	Capillary Malformation- Arteriovenous Malformation, Parkes Weber Syndrome	AD	99.56	169 of 169
*RASA2*	Noonan Syndrome		99.82	5 of 5
*RIT1*	Noonan Syndrome	AD	99.85	27 of 27
*RRAS*	Noonan Syndrome		95.86	3 of 3
*RRAS2*	Noonan Syndrome	AD	99.8	6 of 6
*SASH1*	Pigment Dyscrasia, Onychodystrophy, And Keratoderma, Dyschromatosis Universalis Hereditaria	AD,AR	99.86	15 of 15
*SHOC2*	Noonan Syndrome- Like Disorder With Loose Anagen Hair	AD	99.98	8 of 8
*SOS1*	Hereditary Gingival Fibromatosis, Noonan Syndrome	AD	100	103 of 104
*SOS2*	Noonan Syndrome	AD	99.48	6 of 7
*SPRED1*	Legius Syndrome	AD	100	84 of 84

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

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

Methodology

References

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Noonan Spectrum Disorders and RASopathies Precision Panel

Noonan Syndrome is a genetic disorder that impairs normal development of several parts of the body. The main features of Noonan Syndrome include unusual fascies (hypertelorism, down-slanting eyes, webbed neck), congenital heart disease, short stature and chest deformity.

Overview

Indication

Clinical Utility

Genes & Diseases

Methodology

References

BROCHURE

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