RASopathies

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

3 reviews

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

8 Oct 2020, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: LZTR1 were changed from Noonan syndrome 10 616564; Schwannomatosis-2, susceptibility to 615670 to Noonan syndrome 10 616564; Schwannomatosis-2, susceptibility to 615670; Noonan syndrome 2, 605275

13 Jun 2019, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: LZTR1 were changed from Noonan syndrome 10; Prenatal hydrops; increased nuchal translucency; cardiac findings to Noonan syndrome 10 616564; Schwannomatosis-2, susceptibility to 615670

4 Apr 2018, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for LZTR1 were set to Noonan syndrome 10; Prenatal hydrops; increased nuchal translucency; cardiac findings

4 Apr 2018, Gel status: 3

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for LZTR1 were set to 25795793; 29469822

4 Apr 2018, Gel status: 3

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for LZTR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

21 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

21 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

LZTR1 was created by ellenmcdonagh

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

LZTR1 was added to RASopathiespanel. Sources: Expert Review