Lymphoedema_syndromic
Gene: KRAS
KRAS (KRAS proto-oncogene, GTPase)
EnsemblGeneIds (GRCh38): ENSG00000133703
EnsemblGeneIds (GRCh37): ENSG00000133703
OMIM: 190070, Gene2Phenotype
KRAS is in 21 panels
EnsemblGeneIds (GRCh38): ENSG00000133703
EnsemblGeneIds (GRCh37): ENSG00000133703
OMIM: 190070, Gene2Phenotype
KRAS is in 21 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Cardiofaciocutaneous syndrome 2 615278
- Noonan syndrome 3 609942
- OMIM
- 190070
- Clinvar variants
- Variants in KRAS
- 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
- Cardiomyopathy_Paediatric
- Incidentalome_PREGEN_DRAFT
- Lymphoedema_syndromic
- BabyScreen+ newborn screening
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Cancer Predisposition_Paediatric
- Vascular Malformations_Germline
- Macrocephaly_Megalencephaly
- Craniosynostosis
- Vascular Malformations_Somatic
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Autoimmune Lymphoproliferative Syndrome
- Mosaic skin disorders
- Mendeliome
- 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: KRAS was added gene: KRAS was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KRAS were set to 21396583 Phenotypes for gene: KRAS were set to Cardiofaciocutaneous syndrome 2 615278; Noonan syndrome 3 609942 Mode of pathogenicity for gene: KRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments