Noonan Syndrome 9; Ns9
Description
Noonan syndrome is an autosomal dominant disorder characterized by short stature, craniofacial dysmorphism, short and/or webbed neck, cardiac abnormalities, cryptorchidism, and coagulation defects (summary by Yamamoto et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).
Clinical Features
Top most frequent phenotypes and symptoms related to Noonan Syndrome 9; Ns9
- Global developmental delay
- Short stature
- Hypertelorism
- Abnormal facial shape
- Cryptorchidism
- Ptosis
- Downslanted palpebral fissures
- Short neck
- Hyperkeratosis
- Abnormal cardiac septum morphology
And another 8 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Noonan Syndrome 9; Ns9 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
PreSeek Non-invasive Prenatal Gene Sequencing Screen.
By Baylor Miraca Genetics Laboratories (United States).
RIT1, BRAF, SMC1A, SOS1, SOS2, CDKL5, SYNGAP1, TSC1, TSC2, HDAC8, NSD1, CBL, SHOC2, CHD7, COL1A2, SMC3, NIPBL, FGFR2, FGFR3, HRAS , (...)
View the complete list with 9 more genes
Specificity
4 %
Genes
100 % |
Non-immune Hydrops Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9 , (...)
View the complete list with 66 more genes
Specificity
2 %
Genes
100 % |
NGS RASopathy Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RIT1, RRAS, BRAF, SOS1, SOS2, CBL, SHOC2, KAT6B, SPRED1, A2ML1, CABIN1, NSUN2, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NF2, NRAS , (...)
View the complete list with 3 more genes
Specificity
5 %
Genes
100 % |
Noonan Syndrome 11-Gene Sequencing Panel.
By Center for Human Genetics, Inc (United States).
RIT1, BRAF, SOS1, SOS2, CBL, SHOC2, KRAS, LZTR1, NRAS, PTPN11, RAF1
Specificity
10 %
Genes
100 % |
Rasopathy NextGen Panel.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).
RIT1, RRAS, BRAF, SOS1, SOS2, ACTB, ACTG1, CBL, SHOC2, SPRED1, A2ML1, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NRAS, PPP1CB, PTPN11, RAF1 , (...)
View the complete list with 1 more genes
Specificity
5 %
Genes
100 % |
Prenatal Noonan Spectrum Panel.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
RIT1, BRAF, SOS1, SOS2, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1
Specificity
9 %
Genes
100 % |
Noonan syndrome/RASopathy Disorders Panel.
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States).
RIT1, BRAF, SOS1, SOS2, ACTB, ACTG1, CBL, SHOC2, SPRED1, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PPP1CB, PTPN11, RAF1
Specificity
6 %
Genes
100 % |
Noonan syndrome 9 (sequence analysis of SOS2 gene).
By CGC Genetics (Portugal).
SOS2
Specificity
100 %
Genes
100 % |
You can get up to 42 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like UV-SENSITIVE SYNDROME 2; UVSS2