Incidentalome

Gene: NF2

Green List (high evidence)

Neurofibromatosis: PTC = severe, missense/small inframes = milder disease
Cancer susceptibility: from somatic 2nd hit
People with NF are more susceptible to meningiomas and schwannomas (Knudson two-hit model)

Intragenic CNVs and mosaicism are commonly reported (PMID: 29409008)

Created: 15 Jun 2021, 6:47 a.m. | Last Modified: 15 Jun 2021, 6:47 a.m.

Panel Version: 0.68

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

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

Publications

• PMID: 29409008

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Well established gene-disease association.

Created: 6 Jan 2021, 10:40 p.m. | Last Modified: 6 Jan 2021, 10:40 p.m.

Panel Version: 0.51

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurofibromatosis, type 2, MIM# 101000

PMID: 33075808 - Sun et al 2020 - mouse model of Nf2 inactivation in embryonic eyes shows increased retinal pigmented epithelium proliferation which they propose result defects leading to persistent coloboma.

Created: 6 Jan 2021, 4:10 p.m. | Last Modified: 6 Jan 2021, 4:10 p.m.

Panel Version: 0.51

Publications

• 33075808