Neurofibromatosis Type 2

Table of contents:

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

Description

Neurofibromatosis type 2 (NF2) is a tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas.

Genes related to Neurofibromatosis Type 2

NF2

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Neurofibromatosis Type 2

Ataxia
Sensorineural hearing impairment
Cataract
Visual impairment
Gait disturbance
Facial palsy
Corneal opacity
Papule
Vertigo
Sensory neuropathy

And another 15 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Based on the latest data available NEUROFIBROMATOSIS TYPE 2 have a estimated prevalence of 1.7 per 100k worldwide.
— No data available about the known clinical features onset.

Alternative names

Neurofibromatosis Type 2 Is also known as nf2, bilateral acoustic neurofibromatosis, central neurofibromatosis.

Researches and researchers

Doctors, researchs, and experts related to Neurofibromatosis Type 2 extracted from public data.

Neurofibromatosis Type 2 Experts map

Current Researchs and researchers

— Pr Sarah HUGHES
Investigator of research project
- Institution/s:
  — University of Alberta
- Research area/topic::
  Indentification and characterization of Merlin interacting proteins

CRÉTEIL — RÉSEAU NF-FRANCE
Coordinator of research network
- Institution/s:
  — CHU Henri Mondor
- Research area/topic::
  NF-France Network

CRÉTEIL — Pr Pierre WOLKENSTEIN
Coordinator of expert centre - Clinical expert - Principal investigator of clinical trial - Contact person of registry - Coordinator of research network
- Institution/s:
  — CHU Henri Mondor
- Research area/topic::
  GM: study group on neurofibromatosis - part of the Genodermatosis in Mediterranean network

LYON — Dr Patrick COMBEMALE
Coordinator of expert centre - Clinical expert - Coordinator of research network
- Institution/s:
  — Unité de dermatologie, CLCC Léon Bérard
- Research area/topic::
  NF-France Network

PARIS — Pr Smaïl HADJ-RABIA
Coordinator of expert centre - Clinical expert - Investigator of research project - Coordinator of research network
- Institution/s:
  — Service de dermatologie, CHU Paris - Hôpital Necker-Enfants Malades
  — CHU Paris - Hôpital Necker-Enfants Malades
- Research area/topic::
  Réseau sur les neurofibromatoses

ERFURT — Pr Steffen ROSAHL
Coordinator of expert centre - Clinical expert - Investigator of research project
- Institution/s:
  — Helios Klinikum Erfurt
- Research area/topic::
  Growth patterns of NF2-associated tumors

Neurofibromatosis Type 2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hereditary Brain, CNS, PNS Cancer Panel. By Baylor Miraca Genetics Laboratories (United States). TP53, VHL, SUFU, PALB2, ALK, APC, MEN1, MLH1, MRE11, MSH2, MSH6, NBN, NF2, ATM, PMS2, PHOX2B, PTCH1 Specificity 6 % Genes 100 %
Hereditary Brain, CNS, PNS Cancer Panel. By Baylor Miraca Genetics Laboratories (United States). TP53, VHL, SUFU, PALB2, ALK, APC, MEN1, MLH1, MRE11, MSH2, MSH6, NBN, NF2, ATM, PMS2, PHOX2B, PTCH1 Specificity 6 % Genes 100 %
Comprehensive Hereditary Cancer Panel. By Baylor Miraca Genetics Laboratories (United States). RUNX1, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, VHL, WT1, CBL, SUFU, CDC73, CDH1, CDK4, CDKN1C, CDKN2A , (...) View the complete list with 39 more genes Panel complete gene list RUNX1, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, VHL, WT1, CBL, SUFU, CDC73, CDH1, CDK4, CDKN1C, CDKN2A, CEBPA, SBDS, BRIP1, SDHAF2, TMEM127, PALB2, FLCN, ENG, FH, GATA2, ALK, GPC3, APC, SMAD4, MAX, MEN1, MET, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, NF2, ATM, PAX5, PMS1, PMS2, PHOX2B, PRF1, PRKAR1A, BARD1, PTCH1, PTEN, PTPN11, RAD50, RAD51C, RAD51D, RET Specificity 2 % Genes 100 %
Neurofibromatosis Type 2 (NF2) Duplication/Deletion Test. By Athena Diagnostics Inc (United States). NF2 Specificity 100 % Genes 100 %
Neurofibromatosis Type 2 (NF2) Evaluation. By Athena Diagnostics Inc (United States). NF2 Specificity 100 % Genes 100 %
Neurofibromatosis Type 2 DNA Sequencing Test. By Athena Diagnostics Inc (United States). NF2 Specificity 100 % 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 %
Neurofibromatosis Syndrome 2. By Center for Human Genetics, Inc (United States). NF2 Specificity 100 % Genes 100 %

You can get up to 114 more panels with our dedicated tool

Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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