Variant: rs869320686 

    present in Gene: LZTR1
    present in Chromosome: 22
    Position on Chromosome: 20990476
    Alleles of this Variant: G/A

rs869320686 in LZTR1 gene and Dysmorphic features PMID 28295212 2017 Constitutional LZTR1 mutation presenting with a unilateral vestibular schwannoma in a teenager.

PMID 25480913 2015 Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis.

PMID 25335493 2015 Expanding the mutational spectrum of LZTR1 in schwannomatosis.

PMID 27472264 2016 Multifocal nerve lesions and LZTR1 germline mutations in segmental schwannomatosis.

PMID 23401320 2013 Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria.

PMID 22105938 2012 Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis.

PMID 27856782 2017 Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis.

PMID 24362817 2014 Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.

PMID 18072270 2008 Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas.

PMID 25795793 2015 Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.

PMID 19582488 2010 Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation.

PMID 16356934 2006 The BTB-kelch protein LZTR-1 is a novel Golgi protein that is degraded upon induction of apoptosis.