Familial Tumours Syndromes of the central & peripheral Nervous system
Gene: LZTR1EnsemblGeneIds (GRCh38): ENSG00000099949
EnsemblGeneIds (GRCh37): ENSG00000099949
OMIM: 600574, Gene2Phenotype
LZTR1 is in 14 panels
2 reviews
D Gareth Evans (UoM)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ellen Thomas (Genomics England Curator)
Comment on list classification: Germline predisposition to familial shwannomatosisCreated: 15 Feb 2016, 12:48 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- {Schwannomatosis-2, susceptibility to}, 615670
- (originally on Familial schwannomatosis gene panel)
- familial schwannomatosis
- OMIM
- 600574
- Clinvar variants
- Variants in LZTR1
- Penetrance
- Complete
- Publications
-
- PubMed: 24362817
- 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
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen Thomas (Genomics England Curator)Publications for LZTR1 were set to PubMed: 24362817
Set Mode of Inheritance
D Gareth Evans (UoM)Model of inheritance for gene LZTR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added New Source
D Gareth Evans (UoM)LZTR1 was added to Familial Tumours Syndromes of the central & peripheral Nervous systempanel. Source: UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)LZTR1 was added to Familial Tumours Syndromes of the central & peripheral Nervous systempanel. Sources: Radboud University Medical Center, Nijmegen