Hydrops fetalis
Gene: LZTR1

LZTR1 (leucine zipper like transcription regulator 1)
EnsemblGeneIds (GRCh38): ENSG00000099949
EnsemblGeneIds (GRCh37): ENSG00000099949
OMIM: 600574, Gene2Phenotype
LZTR1 is in 14 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Autosomal dominant Noonan syndrome - GOF missense
Autosomal recessive Noonan syndrome - LOF missense & PTCs
Schwannomatosis - somatic 2nd hit, LOF

No pattern for GOF, LOF missense (ie. GOF dont cluster to a particular domain)

Reduced penetrance demonstrated for schannomatosis only (24362817).
Created: 30 Jan 2020, 10:07 p.m. | Last Modified: 30 Jan 2020, 10:07 p.m.

Panel Version: 0.108

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Noonan syndrome 10; Noonan syndrome 2; {Schwannomatosis-2, susceptibility to}

Publications

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

Created: 30 Jan 2020, 10:07 p.m.
Last Modified: 30 Jan 2020, 10:07 p.m.
Panel version: 0.108

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Noonan syndrome 10
Noonan syndrome 2
{Schwannomatosis-2, susceptibility to}

OMIM

600574

Clinvar variants

Variants in LZTR1

Penetrance

None

Publications

Mode of Pathogenicity

Other

Panels with this gene