Genes in panel
STRs in panel
Prev Next

Cardiomyopathies - including childhood onset

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 15 panels

4 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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

Andrea Haworth (ACGS, Congenica)

Green List (high evidence)

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

Alice Gardham (Genomics England)

Green List (high evidence)

Comment on list classification: Recommended by expert reviewer and discussed internally
Created: 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 domain
Created: 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

Ellen McDonagh (Genomics England Curator)

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

History Filter Activity

2 Dec 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to LZTR1.

4 Sep 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

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