Undiagnosed neurocutaneous disorders
Gene: KRASEnsemblGeneIds (GRCh38): ENSG00000133703
EnsemblGeneIds (GRCh37): ENSG00000133703
OMIM: 190070, Gene2Phenotype
KRAS is in 30 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Literature
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Noonan syndrome 3, 609942
- OMIM
- 190070
- Clinvar variants
- Variants in KRAS
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Monogenic short stature
- Intellectual disability
- Early onset or syndromic epilepsy
- Adult solid tumours cancer susceptibility
- Osteogenesis imperfecta
- Embryonal tumour of possible germline origin
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Primary lymphoedema
- Neurological segmental overgrowth
- Fetal anomalies
- Fetal hydrops
- Familial rhabdomyosarcoma
- Sarcoma of possible germline origin
- Hereditary neuropathy
- RASopathies
- Primary immunodeficiency or monogenic inflammatory bowel disease
- IUGR and IGF abnormalities
- DDG2P
- Childhood solid tumours cancer susceptibility
- Segmental overgrowth disorders - Deep sequencing
- Paediatric or syndromic cardiomyopathy
- Sarcoma cancer susceptibility
- Pigmentary skin disorders
- Cytopenias and congenital anaemias
- COVID-19 research
- Mosaic skin disorders - Deep sequencing
- Sarcoma susceptibility
- Hereditary neuropathy or pain disorder
- Childhood solid tumours
- Multiple monogenic benign skin tumours
History Filter Activity
Added New Source
Rebecca Foulger (Genomics England curator)KRAS was added to Undiagnosed neurocutaneous disorderspanel. Source: Literature
Set publications
Rebecca Foulger (Genomics England curator)Publications for KRAS were set to 26903185
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for KRAS were set to Noonan syndrome 3, 609942
Added New Source
Ellen McDonagh (Genomics England Curator)KRAS was added to Undiagnosed neurocutaneous disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Created
Ellen McDonagh (Genomics England Curator)KRAS was created by ellenmcdonagh