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Mosaic skin disorders

Gene: NF2

Green List (high evidence)
NF2 (neurofibromin 2)
EnsemblGeneIds (GRCh38): ENSG00000186575
EnsemblGeneIds (GRCh37): ENSG00000186575
OMIM: 607379, Gene2Phenotype
NF2 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mosaic manifestations recognised.
Created: 18 Feb 2021, 7:48 a.m. | Last Modified: 18 Feb 2021, 7:48 a.m.
Panel Version: 0.7

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Schwannomatosis, somatic 162091; Meningioma, NF2-related, somatic 607174; Neurofibromatosis, type 2 101000

Publications

Created: 18 Feb 2021, 7:48 a.m.
Last Modified: 18 Feb 2021, 7:48 a.m.
Panel version: 0.7

Details

Mode of Inheritance
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
OMIM
607379
Clinvar variants
Variants in NF2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Feb 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag somatic tag was added to gene: NF2.

18 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nf2 has been classified as Green List (High Evidence).

18 Feb 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NF2 were changed from NF2; NEUROFIBROMATOSIS, TYPE II to Schwannomatosis, somatic 162091; Meningioma, NF2-related, somatic 607174; Neurofibromatosis, type 2 101000

18 Feb 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NF2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

18 Feb 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NF2 was added gene: NF2 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp Mode of inheritance for gene: NF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NF2 were set to 29409008 Phenotypes for gene: NF2 were set to NF2; NEUROFIBROMATOSIS, TYPE II