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
-
- Intellectual disability
- Pigmentary skin disorders
- Embryonal tumour of possible germline origin
- Mosaic skin disorders - deep sequencing
- Sarcoma of possible germline origin
- Fetal hydrops
- Fetal anomalies
- Familial rhabdomyosarcoma
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Monogenic short stature
- Segmental overgrowth disorders - Deep sequencing
- RASopathies
- IUGR and IGF abnormalities
- Hereditary neuropathy
- Early onset or syndromic epilepsy
- Childhood solid tumours cancer susceptibility
- Paediatric or syndromic cardiomyopathy
- Hereditary neuropathy or pain disorder
- Multiple monogenic benign skin tumours
- Sarcoma cancer susceptibility
- Primary lymphoedema
- Cytopenias and congenital anaemias
- COVID-19 research
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Childhood solid tumours
- Sarcoma susceptibility
- Osteogenesis imperfecta
- Adult solid tumours cancer susceptibility
- DDG2P
- Neurological segmental overgrowth
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