Noonan Syndrome

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 (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects.

Genes related to Noonan Syndrome

KAT6B
KRAS
BRAF
NRAS
RAF1
LZTR1
SOS1
RRAS
PTPN11
A2ML1
RIT1
RASA2
SOS2

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Noonan Syndrome

Intellectual disability
Short stature
Hearing impairment
Scoliosis
Growth delay
Hypertelorism
Nystagmus
Failure to thrive
Micrognathia
Strabismus

And another 148 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 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 12 % Genes 77 %
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 57 % Genes 100 %
KAT6B Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). KAT6B Specificity 100 % Genes 8 %
KAT6B Deletion/duplication analysis. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). KAT6B Specificity 100 % Genes 8 %
Noonan Spectrum Disorders Panel, Sequencing. By ARUP Laboratories, Molecular Genetics and Genomics (United States). RIT1, BRAF, SOS1, CBL, SHOC2, KAT6B, SPRED1, RAB40AL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1 Specificity 54 % Genes 62 %
Noonan Spectrum Disorders Panel, Sequencing, Fetal. By ARUP Laboratories, Molecular Genetics and Genomics (United States). RIT1, BRAF, SOS1, CBL, SHOC2, KAT6B, SPRED1, RAB40AL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1 Specificity 54 % Genes 62 %
KAT6B. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). KAT6B Specificity 100 % Genes 8 %
KAT6B. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). KAT6B Specificity 100 % Genes 8 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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