Paediatric or syndromic cardiomyopathy
Gene: LZTR1
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
PMID: 29469822
Describes autosomal recessive MOI in 23 individuals from 12 families with Noonan's phenotype.
The phenotypic range included mildly affected patients, but it was lethal in some, with cardiac disease and leukemia. All of the parents were unaffected.Created: 7 Mar 2018, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Prenatal hydrops; increased nuchal translucency; cardiac findings
Publications
Comment on list classification: Recommended by expert reviewer and discussed internallyCreated: 21 Dec 2016, 3:01 p.m.
Recommended by expert reviewer. Only one published paper. Mutations found in five affected families -all in the same protein domainCreated: 21 Dec 2016, 3 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Noonan syndrome 10 616564 ; Schwannomatosis-2, susceptibility to 615670
Publications
Comment on mode of inheritance: Mode of inheritance changed from monoallelic to 'both' monoallelic and biallelic due to the new publication PMID: 29469822 and reviewer's comment. Confirmed with the Genomics England clinical team before making this change.Created: 4 Apr 2018, 12:58 p.m.
Gene suggested by reviewer to add to the panel.Created: 21 Dec 2016, 1:46 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Noonan syndrome 10
Publications
Source NHS GMS was added to LZTR1.
gene: LZTR1 was added gene: LZTR1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,Expert List 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 Schwannomatosis-2, susceptibility to 615670; Noonan syndrome 10 616564