LZTR1

Gene Symbol:
LZTR1
HGNC:6742
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
22q11.21
Filters:

Definitive classifications

AD
09/06/2023
Evaluated
07/02/2025
Submitted
AD
04/23/2020
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

LZTR1 was associated with autosomal dominant Noonan syndrome by Chen et al. in 2014. Evidence sup... Read more

Noonan syndrome 10
Submitted as: OMIM:616564
AD
10/09/2020
Evaluated
11/09/2020
Submitted
AR
08/27/2020
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

LZTR1 was first reported in relation to autosomal recessive Noonan syndrome in 2018 (Johnston et... Read more

Noonan syndrome 10
Submitted as: OMIM:616564
AD
01/27/2025
Evaluated
07/02/2025
Submitted
Noonan syndrome 10
Submitted as: OMIM:616564
AD
02/26/2018
Evaluated
03/02/2021
Submitted
LZTR1-related schwannomatosis
Submitted as: OMIM:615670
AD
02/20/2017
Evaluated
03/02/2021
Submitted

Strong classifications

LZTR1-related schwannomatosis
Submitted as: OMIM:615670
AD
12/07/2020
Evaluated
11/30/2023
Submitted
Noonan syndrome 10
Submitted as: OMIM:616564
AR
01/27/2025
Evaluated
07/02/2025
Submitted
LZTR1-related schwannomatosis
Submitted as: OMIM:615670
AD
10/07/2020
Evaluated
10/08/2020
Submitted
Noonan syndrome 10
Submitted as: OMIM:616564
AD
10/07/2020
Evaluated
10/08/2020
Submitted
Noonan syndrome 10
Submitted as: OMIM:616564
AD
03/06/2023
Evaluated
11/30/2023
Submitted
Noonan syndrome 2
Submitted as: OMIM:605275
AR
10/09/2020
Evaluated
11/09/2020
Submitted
Noonan syndrome 2
Submitted as: OMIM:605275
AR
10/07/2020
Evaluated
10/08/2020
Submitted

Moderate classifications

AD
09/06/2023
Evaluated
07/02/2025
Submitted
Noonan syndrome 2
Submitted as: OMIM:605275
AR
02/04/2021
Evaluated
03/02/2021
Submitted

Supportive classifications

Noonan syndrome
Submitted as: Orphanet:648
AD
09/14/2021
Evaluated
09/14/2021
Submitted

No Known Disease Relationship classifications

Noonan syndrome with multiple lentigines
AD
04/30/2018
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

No published evidence to date has implicated an association between LZTR1 variants and NSML.

AD
04/30/2018
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

No published evidence to date has implicated an association between LZTR1 variants and CS.

cardiofaciocutaneous syndrome
AD
04/30/2018
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

No published evidence to date has implicated an association between LZTR1 variants and CFC.

Noonan syndrome with multiple lentigines
AR
04/30/2018
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

No published evidence to date has implicated an association between LZTR1 variants and NSML.

AR
04/30/2018
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

No published evidence to date has implicated an association between LZTR1 variants and CS.

cardiofaciocutaneous syndrome
AR
04/30/2018
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

No published evidence to date has implicated an association between LZTR1 variants and CFC.

Noonan syndrome-like disorder with loose anagen hair
AD
04/30/2018
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

No published evidence to date has implicated an association between BRAF variants and Noonan-like... Read more

Noonan syndrome-like disorder with loose anagen hair
AR
04/30/2018
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

No published evidence to date has implicated an association between LZTR1 variants and NS/LAH.Read more

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