Gene: LZTR1

Alternate names for this Gene: BTBD29|LZTR-1|NS10|NS2|SWNTS2

Gene Summary: This gene encodes a member of the BTB-kelch superfamily. Initially described as a putative transcriptional regulator based on weak homology to members of the basic leucine zipper-like family, the encoded protein subsequently has been shown to localize exclusively to the Golgi network where it may help stabilize the Gogli complex. Deletion of this gene may be associated with DiGeorge syndrome.

Gene is located in Chromosome: 22

Location in Chromosome : 22q11.21|22q11.1-q11.2

Description of this Gene: leucine zipper like transcription regulator 1

Type of Gene: protein-coding

rs1034395178 in LZTR1 gene and Abnormal location of ears PMID 29469822 2018 Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

rs1034395178 in LZTR1 gene and Abnormality of pelvic girdle bone morphology PMID 29469822 2018 Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

rs1034395178 in LZTR1 gene and Abnormality of the acetabulum PMID 29469822 2018 Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

rs1034395178 in LZTR1 gene and Aspiration Pneumonia PMID 29469822 2018 Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

rs1034395178 in LZTR1 gene and Asthma PMID 29469822 2018 Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

rs1034395178 in LZTR1 gene and Contractures of the joints of the lower limbs PMID 29469822 2018 Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

rs1034395178 in LZTR1 gene and Delayed speech and language development PMID 29469822 2018 Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

rs1034395178 in LZTR1 gene and Dilatation of pulmonary artery, unspecified PMID 29469822 2018 Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

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.

rs776893978 in LZTR1 gene and GLIOMA SUSCEPTIBILITY 1 PMID 30442766 2018 LZTR1 is a regulator of RAS ubiquitination and signaling.

rs1034395178 in LZTR1 gene and Generalized hypotonia PMID 29469822 2018 Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

rs1034395178 in LZTR1 gene and Gestational Diabetes PMID 29469822 2018 Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

rs1034395178 in LZTR1 gene and Global developmental delay PMID 29469822 2018 Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

rs1034395178 in LZTR1 gene and Gross motor development delay PMID 29469822 2018 Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

rs1034395178 in LZTR1 gene and Hip Dysplasia PMID 29469822 2018 Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

rs1034395178 in LZTR1 gene and Large for gestational age PMID 29469822 2018 Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

rs1034395178 in LZTR1 gene and Left ventricular septal hypertrophy PMID 29469822 2018 Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

rs1034395178 in LZTR1 gene and Long palpebral fissure PMID 29469822 2018 Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

rs1034395178 in LZTR1 gene and Low set ears PMID 29469822 2018 Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

rs1034395178 in LZTR1 gene and Malar flattening PMID 29469822 2018 Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

rs1034395178 in LZTR1 gene and Microcephaly (physical finding) PMID 29469822 2018 Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

rs1034395178 in LZTR1 gene and Mild Mental Retardation PMID 29469822 2018 Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

rs178293 in LZTR1 gene and Myocardial Infarction PMID 21211798 2011 Association of a polymorphism of BTN2A1 with myocardial infarction in East Asian populations.

rs1223430276 in LZTR1 gene and NOONAN SYNDROME 10 PMID 29959388 2019 Noonan syndrome associated with growth hormone deficiency with biallelic LZTR1 variants.

PMID 30442762 2018 Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination.

PMID 30442766 2018 LZTR1 is a regulator of RAS ubiquitination and signaling.

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

PMID 30368668 2019 Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.

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

PMID 30481304 2019 Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling.

rs1034395178 in LZTR1 gene and Neonatal respiratory distress PMID 29469822 2018 Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

rs1034395178 in LZTR1 gene and Noonan Syndrome 2 PMID 29469822 2018 Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

PMID 30481304 2019 Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling.

PMID 30368668 2019 Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.

PMID 25741868 2015 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

PMID 20876176 2010 Noonan syndrome: clinical features, diagnosis, and management guidelines.

rs1034395178 in LZTR1 gene and Orbital separation excessive PMID 29469822 2018 Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

rs1034395178 in LZTR1 gene and Polyhydramnios PMID 29469822 2018 Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

rs1034395178 in LZTR1 gene and Poor suck PMID 29469822 2018 Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

rs1034395178 in LZTR1 gene and Posteriorly rotated ear PMID 29469822 2018 Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

rs1034395178 in LZTR1 gene and Premature Birth PMID 29469822 2018 Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

rs1034395178 in LZTR1 gene and Premature birth following premature rupture of fetal membranes PMID 29469822 2018 Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

rs1034395178 in LZTR1 gene and Prolonged neonatal jaundice PMID 29469822 2018 Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

rs1034395178 in LZTR1 gene and Pulmonary Stenosis PMID 29469822 2018 Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

rs1419388177 in LZTR1 gene and SCHWANNOMATOSIS 2 PMID 30442766 2018 LZTR1 is a regulator of RAS ubiquitination and signaling.

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

PMID 30442762 2018 Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination.

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

PMID 30481304 2019 Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling.

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

rs1034395178 in LZTR1 gene and Short philtrum PMID 29469822 2018 Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

rs1034395178 in LZTR1 gene and Short stature PMID 29469822 2018 Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

rs1034395178 in LZTR1 gene and Superior pectus carinatum PMID 29469822 2018 Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.