Schwannomatosis 1; Swnts1

Description

Schwannomatosis, also known as neurilemmomatosis, first reported by Niimura (1973) as neurofibromatosis type 3, is characterized by multiple cutaneous neurilemmomas and spinal schwannomas, without acoustic tumors or other signs of neurofibromatosis I (NF1 ) or neurofibromatosis II (NF2 ). In neurilemmomas, the tumor consists of Schwann cells. Some patients may develop meningiomas (van den Munckhof et al., 2012). Genetic Heterogeneity of SchwannomatosisSee also schwannomatosis-2 (OMIM ), conferred by germline heterozygous mutation in the LZTR1 gene (OMIM ) on chromosome 22q11.Individual schwannoma tumors from patients with schwannomatosis have been found to harbor somatic mutations in SMARCB1 or the neurofibromin-2 gene (NF2 ).

Clinical Features

Top most frequent phenotypes and symptoms related to Schwannomatosis 1; Swnts1

  • Neoplasm
  • Abnormality of the skin
  • Cafe-au-lait spot
  • Neoplasm of the skin
  • Neurofibromas
  • Abnormality of the vertebral column
  • Multiple cafe-au-lait spots
  • Meningioma
  • Schwannoma
  • Spinal cord tumor

And another 2 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.

Alternative names

Schwannomatosis 1; Swnts1 Is also known as neurilemmomatosis, congenital cutaneous.

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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Schwannomatosis 1; Swnts1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Coffin-Siris Syndrome Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, SOX11, BTD, HDAC8, ADNP, ARID2, ARID1B, PHF6, ANKRD11, SMC3, PIGV, NIPBL, TBC1D24, HELLS, KMT2D , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %
VistaSeq Brain/CNS/PNS Cancer Panel.

By Molecular Diagnostic Laboratory University of Alberta (Canada).

SMARCB1, TP53, VHL, SUFU, ALK, APC, MEN1, MLH1, MSH2, MSH6, NBN, NF1, NF2, PMS2, PHOX2B, PTCH1, RB1
Specificity
12 %
Genes
100 %
SMARCB1 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

SMARCB1
Specificity
100 %
Genes
50 %
Cornelia de Lange Syndrome PLUS Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

ROR2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, SOX11, WNT5A, HDAC8, ADNP, ARID1B, PHF6, ANKRD11, CREBBP, SMC3, ESCO2, NIPBL, TBC1D24, EP300 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %
Non-Specific Intellectual Disability Panel.

By Genetic Services Laboratory University of Chicago (United States).

RPS6KA3, CLIP1, SCN2A, ST3GAL3, SLC16A2, SLC25A1, SLC6A8, SLC9A6, SMARCA4, SMARCB1, ARID1A, SMC1A, KDM5C, SMS, SOX11, CDKL5, STXBP1, SYN1, SYNGAP1, SYP , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
50 %
Coffin-Siris syndrome Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SOX11, ADNP, ARID1B, PHF6, ANKRD11, TBC1D24
Specificity
10 %
Genes
50 %
Coffin-Siris syndrome Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SOX11, ADNP, ARID1B, PHF6, ANKRD11, TBC1D24
Specificity
10 %
Genes
50 %
Cornelia de Lange PLUS Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

ROR2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, SOX11, WNT5A, HDAC8, ADNP, AFF4, ARID1B, PHF6, ANKRD11, CREBBP, SMC3, ESCO2, NIPBL, TBC1D24 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
50 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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