Schwannomatosis 2; Swnts2

Description

Schwannomatosis is an adult-onset tumor predisposition syndrome characterized by the development of multiple schwannomas in various areas of the body (summary by Piotrowski et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of schwannomatosis, see SWNTS1 (OMIM ).

Clinical Features

Phenotypes and symptoms related to Schwannomatosis 2; Swnts2

  • Neoplasm
  • Schwannoma
  • Spinal cord tumor

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.

Schwannomatosis 2; Swnts2 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
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 %
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 %

You can get up to 50 more panels with our dedicated tool

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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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