Cardiomyopathy_Paediatric
Gene: MRASEnsemblGeneIds (GRCh38): ENSG00000158186
EnsemblGeneIds (GRCh37): ENSG00000158186
OMIM: 608435, Gene2Phenotype
MRAS is in 6 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
At least 6 unrelated individuals reported with NS, cardiomyopathy specifically reported
Sources: Expert listCreated: 7 Aug 2020, 1:01 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Noonan syndrome, MIM#618499
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Noonan syndrome, MIM#618499
- OMIM
- 608435
- Clinvar variants
- Variants in MRAS
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mras has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mras has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MRAS was added gene: MRAS was added to Cardiomyopathy_Paediatric. Sources: Expert list Mode of inheritance for gene: MRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MRAS were set to 28289718; 31173466; 31108500; 31173466 Phenotypes for gene: MRAS were set to Noonan syndrome, MIM#618499 Review for gene: MRAS was set to GREEN