Undiagnosed neurocutaneous disorders
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, imprinted status unknown
- Sources
-
- Literature
- Other
- Phenotypes
-
- {Schwannomatosis-2, susceptibility to}, 615670
- Noonan syndrome 10, 616564
- OMIM
- 600574
- Clinvar variants
- Variants in LZTR1
- Penetrance
- Complete
- 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
- Intellectual disability
- Fetal anomalies
- Pigmentary skin disorders
- Monogenic short stature
- Fetal hydrops
- Primary lymphoedema
History Filter Activity
Added New Source
Rebecca Foulger (Genomics England curator)LZTR1 was added to Undiagnosed neurocutaneous disorderspanel. Source: Literature
Added New Source
Rebecca Foulger (Genomics England curator)LZTR1 was added to Undiagnosed neurocutaneous disorderspanel. Sources: Other
Created
Rebecca Foulger (Genomics England curator)LZTR1 was created by rfoulger