Monogenic short stature
Gene: LZTR1
LZTR1 (leucine zipper like transcription regulator 1)
EnsemblGeneIds (GRCh38): ENSG00000099949
EnsemblGeneIds (GRCh37): ENSG00000099949
OMIM: 600574, Gene2Phenotype
LZTR1 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000099949
EnsemblGeneIds (GRCh37): ENSG00000099949
OMIM: 600574, Gene2Phenotype
LZTR1 is in 14 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
Comment on phenotypes: Previous phenotypes (overwritten): Noonan syndrome 10;increased nuchal translucency;Prenatal hydrops;cardiac findingsCreated: 26 Mar 2024, 3:57 p.m. | Last Modified: 26 Mar 2024, 3:57 p.m.
Panel Version: 3.36
Rebecca Foulger (Genomics England curator)
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that genes associated with RASopathies should be included on this panel, excluding NF1. Therefore added to panel as a Green gene.Created: 30 May 2019, 9:54 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Noonan syndrome 10; Prenatal hydrops; increased nuchal translucency; cardiac findings
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Noonan syndrome 10, OMIM:616564 (AD)
- Noonan syndrome 2, OMIM:605275 (AR)
- OMIM
- 600574
- Clinvar variants
- Variants in LZTR1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Familial tumours of the nervous system
- Childhood solid tumours
- Familial Tumours Syndromes of the central & peripheral Nervous system
- DDG2P
- Adult solid tumours cancer susceptibility
- RASopathies
- Hypertrophic cardiomyopathy
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Pigmentary skin disorders
- Monogenic short stature
- Fetal hydrops
- Primary lymphoedema
- Intellectual disability
History Filter Activity
26 Mar 2024, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: LZTR1 was added gene: LZTR1 was added to Monogenic short stature. Sources: Expert Review Green Mode of inheritance for gene: LZTR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: LZTR1 were set to 29469822; 25795793 Phenotypes for gene: LZTR1 were set to Noonan syndrome 10, OMIM:616564 (AD); Noonan syndrome 2, OMIM:605275 (AR)