Noonan Syndrome

Description

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

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.


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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
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
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 Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME; SPDRS GORDON HOLMES SYNDROME; GDHS MELANOMA-ASTROCYTOMA SYNDROME FUCOSIDOSIS DIAPHRAGMATIC HERNIA, CONGENITAL LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4; FPLD4

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