Growth failure in early childhood
Gene: LZTR1Comment 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
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
Phenotypes for gene: LZTR1 were changed from Noonan syndrome 10; increased nuchal translucency; Prenatal hydrops; cardiac findings to Noonan syndrome 10, OMIM:616564 (AD); Noonan syndrome 2, OMIM:605275 (AR)
gene: LZTR1 was added gene: LZTR1 was added to Growth failure in early childhood. 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; increased nuchal translucency; Prenatal hydrops; cardiac findings