Lymphoedema_syndromic
Gene: HRAS
HRAS (HRas proto-oncogene, GTPase)
EnsemblGeneIds (GRCh38): ENSG00000174775
EnsemblGeneIds (GRCh37): ENSG00000174775
OMIM: 190020, Gene2Phenotype
HRAS is in 22 panels
EnsemblGeneIds (GRCh38): ENSG00000174775
EnsemblGeneIds (GRCh37): ENSG00000174775
OMIM: 190020, Gene2Phenotype
HRAS is in 22 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Costello syndrome 218040
- OMIM
- 190020
- Clinvar variants
- Variants in HRAS
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
- Panels with this gene
-
- Rasopathy
- Calcium and Phosphate disorders
- Cardiomyopathy_Paediatric
- Lymphoedema_syndromic
- BabyScreen+ newborn screening
- Hydrops fetalis
- Sarcoma soft tissue
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Cancer Predisposition_Paediatric
- Muscular dystrophy and myopathy_Paediatric
- Vascular Malformations_Germline
- Macrocephaly_Megalencephaly
- Vascular Malformations_Somatic
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Mosaic skin disorders
- Mendeliome
- Interstitial Lung Disease
- Callosome
- Growth failure
History Filter Activity
29 Jan 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Sue White (Victorian Clinical Genetics Services)gene: HRAS was added gene: HRAS was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HRAS were set to 21396583; 16969868; 16443854; 16170316 Phenotypes for gene: HRAS were set to Costello syndrome 218040 Mode of pathogenicity for gene: HRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments