BabyScreen+ newborn screening

Gene: NF2

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurofibromatosis, type 2 (MIM# 101000)

Red List (low evidence)

Gene-disease association: strong. The central or type II form of neurofibromatosis (NF2) is an autosomal dominant multiple neoplasia syndrome characterized by tumors of the eighth cranial nerve (usually bilateral), meningiomas of the brain, and schwannomas of the dorsal roots of the spinal cord. The incidence of neurofibromatosis type II is 1 in 25,000 live births

Severity: moderate-severe

Age of onset: generally considered adult onset disease, with average onset of symptoms 18-24 years; surveillance recommended from 10-12 years

Non-molecular confirmatory testing:

Treatment: screening.

Excluding due to age of onset.

Created: 4 Oct 2022, 11:19 p.m. | Last Modified: 4 Oct 2022, 11:19 p.m.

Panel Version: 0.274

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurofibromatosis type 2 (NF2)