NF2

neurofibromin 2
OMIM: 607379, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Green NF2 in Cataract


Level 2: Ophthalmological disorders
Version 0.366

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurofibromatosis, type 2 (MIM# 101000)

Green NF2 in Incidentalome


Version 0.301

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurofibromatosis, type 2, MIM# 101000
Tags
  • SV/CNV

Green NF2 in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 0.131

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green NF2 in Additional findings_Adult


Level 2: Screening
Version 0.166

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Neurofibromatosis, type 2, MIM# 101000

Red NF2 in CGC_86


Version 0.2

review Other
Sources
  • CGC_86
Phenotypes
  • Neurofibromatosis, type 2

Red NF2 in NCGC


Version 0.2

review Other
Sources
  • NCGC
Phenotypes
  • Neurofibromatosis, type 2

Red NF2 in TCGA_PANCAN_2018


Version 0.2

review Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Neurofibromatosis, type 2

Green NF2 in Schwannomatosis


Level 2: Neurology and neurodevelopmental disorders
Version 0.16

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurofibromatosis, type 2 MIM#101000

Green NF2 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Neurofibromatosis 2

Green NF2 in Incidentalome_PREGEN_DRAFT


Version 0.43

review Unknown
Sources
  • NSW Health Pathology
  • Expert Review Green

Green NF2 in Mosaic skin disorders


Level 2: Dermatological disorders
Version 1.12

Component of the following Super Panels:

  • Vascular Malformations SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • NHS GMS
    Phenotypes
    • Schwannomatosis, somatic 162091
    • Meningioma, NF2-related, somatic 607174
    • Neurofibromatosis, type 2 101000
    Tags
    • somatic

    Red NF2 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Neurofibromatosis, type 2 (MIM# 101000)

    Green NF2 in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance
    Phenotypes
    • Neurofibromatosis, type 2, MIM# 101000