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Mosaic skin disorders - deep sequencing

Gene: NF2

Green List (high evidence)
NF2 (neurofibromin 2)
EnsemblGeneIds (GRCh38): ENSG00000186575
EnsemblGeneIds (GRCh37): ENSG00000186575
OMIM: 607379, Gene2Phenotype
NF2 is in 10 panels

1 review

Catherine Snow (Genomics England)

Added to panel as advised by Genomics England Clinical Team as NF2 is tested on mosaic panel at GOSH and "targeted NGS can detect low level mosaicism in blood (often tumour tissue is tested if available but some may be detectable with deep sequencing of blood)".
Sources: Expert Review
Created: 12 Dec 2019, 3:57 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
NEUROFIBROMATOSIS, TYPE II; NF2

Publications

Created: 12 Dec 2019, 3:57 p.m.

Panel version: 0.20

History Filter Activity

12 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

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

12 Dec 2019, Gel status: 1

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

Catherine Snow (Genomics England)

gene: NF2 was added gene: NF2 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review 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 NEUROFIBROMATOSIS, TYPE II; NF2