NF2

neurofibromin 2
OMIM: 607379, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green NF2 in Familial Tumours Syndromes of the central & peripheral Nervous system

Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.10

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Neurofibromatosis, Type 2
  • Brain, CNS, and PNS Cancer
  • Neurofibromatosis, Type II
  • Neurofibromatosis, type 2, 101000
  • Meningioma, NF2-related, somatic, 607174
  • Schwannomatosis, 162091
  • (originally on Familial schwannomatosis gene panel)

Green NF2 in Adult solid tumours for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.25

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Acoustic neuroma

Green NF2 in Tumour predisposition - childhood onset

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 2.22
Latest signed off version: v2.5 (4 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert List
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Meningioma, NF2-related, somatic, 607174
  • Schwannomatosis, 162091
  • Neurofibromatosis, Type 2
  • Neurofibromatosis, Type II
  • loss of heterozygosity Neurofibromatosis, type 2, 101000
  • Acoustic neuroma

Green NF2 in Pigmentary skin disorders


Version 1.13
Latest signed off version: v1.4 (15 Oct 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • NF2
  • Neurofibromatosis type 2
  • NEUROFIBROMATOSIS, TYPE II

Green NF2 in Cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.76
Latest signed off version: v2.2 (19 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN

Green NF2 in Mosaic skin disorders - deep sequencing


Version 1.5
Latest signed off version: v1.3 (15 Oct 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • NEUROFIBROMATOSIS, TYPE II
  • NF2

Green NF2 in Childhood solid tumours cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.15

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Acoustic neuroma

Green NF2 in Adult solid tumours cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 2.14
Latest signed off version: v2.2 (18 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Acoustic neuroma

Red NF2 in Structural eye disease


Version 1.76
Latest signed off version: v1.3 (4 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Neurofibromatosis, type 2 OMIM:101000
  • neurofibromatosis type 2 MONDO:0007039
Tags
  • for-review

Green NF2 in Severe Paediatric Disorders


Version 1.81

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurofibromatosis, type 2, 101000