Groopman et al 2019 - Genes with diagnostic variants
Gene: KRASEnsemblGeneIds (GRCh38): ENSG00000133703
EnsemblGeneIds (GRCh37): ENSG00000133703
OMIM: 190070, Gene2Phenotype
KRAS is in 30 panels
1 review
Eleanor Williams (Genomics England Curator)
From Groopman et al 2019 Table S7. Gene symbol: KRAS; Inheritance: AD; Clinical diagnosis: Glomerulopathy; Genetic diagnosis: Noonan syndrome 3; OMIM phenotype MIM No.: 609942; Number of cases: 1Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.
Panel Version: 0.4
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Expert review red
- Literature
- Phenotypes
-
- MIM 609942
- Glomerulopathy
- Noonan syndrome 3
- OMIM
- 190070
- Clinvar variants
- Variants in KRAS
- Penetrance
- None
- Panels with this gene
-
- Fetal anomalies
- DDG2P
- Mosaic skin disorders - deep sequencing
- Hereditary neuropathy or pain disorder
- Fetal hydrops
- Early onset or syndromic epilepsy
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Familial rhabdomyosarcoma
- Paediatric or syndromic cardiomyopathy
- RASopathies
- IUGR and IGF abnormalities
- Hereditary neuropathy
- Childhood solid tumours cancer susceptibility
- Primary lymphoedema
- Multiple monogenic benign skin tumours
- Sarcoma cancer susceptibility
- Cytopenias and congenital anaemias
- COVID-19 research
- Neurological segmental overgrowth
- Segmental overgrowth disorders - Deep sequencing
- Embryonal tumour of possible germline origin
- Sarcoma susceptibility
- Osteogenesis imperfecta
- Monogenic short stature
- Adult solid tumours cancer susceptibility
- Pigmentary skin disorders
- Childhood solid tumours
- Sarcoma of possible germline origin
- Intellectual disability
- Primary immunodeficiency or monogenic inflammatory bowel disease
History Filter Activity
Added New Source
Eleanor Williams (Genomics England Curator)Source Expert Review Red was added to KRAS.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: KRAS was added gene: KRAS was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KRAS were set to MIM 609942; Glomerulopathy; Noonan syndrome 3