Primary lymphoedema
Gene: LZTR1EnsemblGeneIds (GRCh38): ENSG00000099949
EnsemblGeneIds (GRCh37): ENSG00000099949
OMIM: 600574, Gene2Phenotype
LZTR1 is in 14 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment on list classification: Based on recommendation from Sahar Mansour (St George's Hospital, London).Created: 27 Jun 2019, 3:43 p.m. | Last Modified: 27 Jun 2019, 3:43 p.m.
Panel Version: 1.55
Sahar Mansour (St George's Hospital, London)
Green gene from RASopathies (Version 1.55)(https://panelapp.genomicsengland.co.uk/panels/48/).Created: 27 Jun 2019, 3:36 p.m. | Last Modified: 27 Jun 2019, 3:36 p.m.
Panel Version: 1.45
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Noonan syndrome 10 616564 ; Schwannomatosis-2, susceptibility to 615670
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Schwannomatosis-2, susceptibility to 615670
- Noonan syndrome 10 616564
- OMIM
- 600574
- Clinvar variants
- Variants in LZTR1
- Penetrance
- None
- 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
- Hypertrophic cardiomyopathy
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Pigmentary skin disorders
- Monogenic short stature
- Fetal hydrops
- Primary lymphoedema
- Intellectual disability
History Filter Activity
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: LZTR1 were set to
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: lztr1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Sarah Leigh (Genomics England Curator)gene: LZTR1 was added gene: LZTR1 was added to Primary lymphoedema. Sources: Expert Review Mode of inheritance for gene: LZTR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: LZTR1 were set to Schwannomatosis-2, susceptibility to 615670; Noonan syndrome 10 616564