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DDG2P

Gene: LZTR1

Green List (high evidence)
LZTR1 (leucine zipper like transcription regulator 1)
EnsemblGeneIds (GRCh38): ENSG00000099949
EnsemblGeneIds (GRCh37): ENSG00000099949
OMIM: 600574, Gene2Phenotype
LZTR1 is in 14 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for LZTR1-related Noonan syndrome (biallelic) are strong, biallelic_autosomal and undetermined (PMIDs: 29469822, 29959388, 30368668, 31182298, 37936555, 38135892). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02571. The DDG2P confidence category, allelic requirement and molecular mechanism for LZTR1-related Noonan syndrome (monoallelic) are definitive, monoallelic_autosomal and undetermined (PMIDs: 25795793, 30368668, 30664951, 30859559, 31533111, 31825158, 33407364, 35656879, 35840934, 36304179). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02988.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease Noonan syndrome is strong. The allelic requirement and mutation consequence are biallelic_autosomal and uncertain (PMIDs: 29959388;30368668). The DDG2P confidence category for the disease NOONAN SYNDROME 10, OMIM:616564 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 31533111;31825158;30664951;30859559;30368668;25795793).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
MONDO:0014693; NOONAN SYNDROME 10, OMIM:616564; LZTR1-related Noonan syndrome (monoallelic); LZTR1-related Noonan syndrome (biallelic); Noonan syndrome; OMIM:616564.0

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

New gene:disorder association added to DDG2P on 08/11/2018: Noonan syndrome. Original DDG2P rating for Noonan syndrome: probable. DG2P mode of pathogenicity for Noonan syndrome: uncertain. DDG2P mode of inheritance for Noonan syndrome: biallelic,monoallelic.
Created: 27 Nov 2018, 10:20 a.m.
Created: 27 Nov 2018, 10:20 a.m.

Panel version: 0.9

History Filter Activity

16 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: LZTR1 was changed from Other to None

4 Oct 2023, Gel status: 3

Added New Source, Set mode of pathogenicity, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to LZTR1. Mode of pathogenicity for gene LZTR1 was changed from Other - please provide details in the comments to Other Publications for gene: LZTR1 were updated from 30368668; 29959388 to 29959388; 31825158; 25795793; 30859559; 30664951; 30368668; 31533111 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: New gene:disorder association

27 Nov 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Rebecca Foulger (Genomics England curator)

gene: LZTR1 was added gene: LZTR1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: LZTR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: LZTR1 were set to 30368668; 29959388 Phenotypes for gene: LZTR1 were set to Noonan syndrome Mode of pathogenicity for gene: LZTR1 was set to Other - please provide details in the comments