Tumour predisposition - adult onset
Gene: LZTR1EnsemblGeneIds (GRCh38): ENSG00000099949
EnsemblGeneIds (GRCh37): ENSG00000099949
OMIM: 600574, Gene2Phenotype
LZTR1 is in 14 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8)
- Phenotypes
-
- {Schwannomatosis-2, susceptibility to}, 615670
- (originally on Familial schwannomatosis gene panel)
- familial schwannomatosis
- OMIM
- 600574
- Clinvar variants
- Variants in LZTR1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Primary lymphoedema
- Intellectual disability
- Monogenic short stature
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Adult solid tumours cancer susceptibility
- RASopathies
- DDG2P
- Childhood solid tumours
- Hypertrophic cardiomyopathy
- Fetal anomalies
- Familial tumours of the nervous system
- Paediatric or syndromic cardiomyopathy
- Pigmentary skin disorders
- Fetal hydrops
History Filter Activity
Panel promoted to version 1.0
Rebecca Foulger (Genomics England curator)Panel checked against two component panels (Adult solid tumours for rare disease v1.21 and Familial Tumours Syndromes of the central & peripheral Nervous system v1.8) and promoted to Version 1.0.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: LZTR1 was added gene: LZTR1 was added to Tumour predisposition - adult onset. Sources: Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8),Expert Review Green Mode of inheritance for gene: LZTR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LZTR1 were set to 24362817 Phenotypes for gene: LZTR1 were set to {Schwannomatosis-2, susceptibility to}, 615670; (originally on Familial schwannomatosis gene panel); familial schwannomatosis