Noonan Syndrome 10; Ns10

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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 ).

Genes related to Noonan Syndrome 10; Ns10

LZTR1

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Clinical Features

Top most frequent phenotypes and symptoms related to Noonan Syndrome 10; Ns10

Short stature
Hypertelorism
Cryptorchidism
Ptosis
Downslanted palpebral fissures
Short neck
Abnormal cardiac septum morphology
Pulmonic stenosis
Webbed neck
Coarctation of aorta

And another 6 symptoms. If you need more information about this disease we can help you.

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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 10; Ns10 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 Panel complete gene list RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9, CDAN1, KAT6B, ALG1, CHRNA1, CHRND, CHRNG, CANT1, KIAA0586, CLCNKA, CLCNKB, SUMF1, PEX26, FAT4, DHCR7, PIEZO1, WDR35, CCBE1, GNPTAB, FGFR3, FOXC2, G6PD, GALNS, GATA1, GBA, GBE1, GLA, GLB1, GUSB, HADHA, HADHB, HRAS, IDUA, FOXP3, KLF1, KIF23, KRAS, LBR, LIPA, LZTR1, MAP2K1, MAP2K2, MID1, KMT2D, ASAH1, MVK, NEU1, NPC1, NRAS, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PIGA, PKLR, PMM2, CTSA, PTH1R, PTPN11, PEX19, PEX5, RAF1, RASA1 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 Panel complete gene list RIT1, RRAS, BRAF, SOS1, SOS2, CBL, SHOC2, KAT6B, SPRED1, A2ML1, CABIN1, NSUN2, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NF2, NRAS, PTPN11, RAF1, RASA2 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 Panel complete gene list RIT1, RRAS, BRAF, SOS1, SOS2, ACTB, ACTG1, CBL, SHOC2, SPRED1, A2ML1, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NRAS, PPP1CB, PTPN11, RAF1, RASA2 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 %
LZTR1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). LZTR1 Specificity 100 % Genes 100 %
Schwannomatosis (sequence analysis of LZTR1 gene). By CGC Genetics (Portugal). LZTR1 Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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