Paediatric or syndromic cardiomyopathy

Gene: LZTR1

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

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

• PMID: 29469822

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

• 25795793

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

• 25795793