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NF2 Gene Deletion

MedGen UID:
1756504
Concept ID:
C5420426
Cell or Molecular Dysfunction
Synonyms: ACN Gene Deletion; BANF Gene Deletion; Merlin Gene Deletion; Neurofibromin 2 Gene Deletion; NF-2 Gene Deletion; NF2 Deletion; SCH Gene Deletion

Definition

A molecular abnormality referring to the loss of at least one copy of the NF2 gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNF2 Gene Deletion

Professional guidelines

PubMed

Lloyd SK, Evans DG
Handb Clin Neurol 2013;115:957-67. doi: 10.1016/B978-0-444-52902-2.00054-0. PMID: 23931824
Selvanathan SK, Shenton A, Ferner R, Wallace AJ, Huson SM, Ramsden RT, Evans DG
Clin Genet 2010 Feb;77(2):163-70. Epub 2009 Nov 23 doi: 10.1111/j.1399-0004.2009.01315.x. PMID: 19968670
Evans DG, Trueman L, Wallace A, Collins S, Strachan T
J Med Genet 1998 Jun;35(6):450-5. doi: 10.1136/jmg.35.6.450. PMID: 9643284Free PMC Article

Recent clinical studies

Etiology

Kinoshita Y, Hamasaki M, Yoshimura M, Matsumoto S, Iwasaki A, Nabeshima K
Mod Pathol 2020 Feb;33(2):235-244. Epub 2019 Jun 23 doi: 10.1038/s41379-019-0309-6. PMID: 31231129
Begnami MD, Palau M, Rushing EJ, Santi M, Quezado M
Hum Pathol 2007 Sep;38(9):1345-50. Epub 2007 May 23 doi: 10.1016/j.humpath.2007.01.027. PMID: 17509660Free PMC Article
Begnami MD, Rushing EJ, Santi M, Quezado M
Int J Surg Pathol 2007 Apr;15(2):110-5. doi: 10.1177/1066896906299128. PMID: 17478763

Diagnosis

Kinoshita Y, Hamasaki M, Yoshimura M, Matsumoto S, Iwasaki A, Nabeshima K
Mod Pathol 2020 Feb;33(2):235-244. Epub 2019 Jun 23 doi: 10.1038/s41379-019-0309-6. PMID: 31231129

Prognosis

Kinoshita Y, Hamasaki M, Yoshimura M, Matsumoto S, Iwasaki A, Nabeshima K
Mod Pathol 2020 Feb;33(2):235-244. Epub 2019 Jun 23 doi: 10.1038/s41379-019-0309-6. PMID: 31231129

Clinical prediction guides

Kinoshita Y, Hamasaki M, Yoshimura M, Matsumoto S, Iwasaki A, Nabeshima K
Mod Pathol 2020 Feb;33(2):235-244. Epub 2019 Jun 23 doi: 10.1038/s41379-019-0309-6. PMID: 31231129
Begnami MD, Palau M, Rushing EJ, Santi M, Quezado M
Hum Pathol 2007 Sep;38(9):1345-50. Epub 2007 May 23 doi: 10.1016/j.humpath.2007.01.027. PMID: 17509660Free PMC Article

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