RASopathies
Gene: LZTR1EnsemblGeneIds (GRCh38): ENSG00000099949
EnsemblGeneIds (GRCh37): ENSG00000099949
OMIM: 600574, Gene2Phenotype
LZTR1 is in 14 panels
3 reviews
Andrea Haworth (ACGS, Congenica)
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
Alice Gardham (Genomics England)
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
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
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Noonan syndrome 10 616564
- Schwannomatosis-2, susceptibility to 615670
- Noonan syndrome 2, 605275
- OMIM
- 600574
- Clinvar variants
- Variants in LZTR1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Familial tumours of the nervous system
- Childhood solid tumours
- Familial Tumours Syndromes of the central & peripheral Nervous system
- DDG2P
- Adult solid tumours cancer susceptibility
- RASopathies
- Intellectual disability
- Hypertrophic cardiomyopathy
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Pigmentary skin disorders
- Monogenic short stature
- Fetal hydrops
- Primary lymphoedema
History Filter Activity
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
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
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for LZTR1 were set to Noonan syndrome 10; Prenatal hydrops; increased nuchal translucency; cardiac findings
Set publications
Ellen McDonagh (Genomics England Curator)Publications for LZTR1 were set to 25795793; 29469822
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
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Created
Ellen McDonagh (Genomics England Curator)LZTR1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)LZTR1 was added to RASopathiespanel. Sources: Expert Review