RASopathies
Gene: KRASEnsemblGeneIds (GRCh38): ENSG00000133703
EnsemblGeneIds (GRCh37): ENSG00000133703
OMIM: 190070, Gene2Phenotype
KRAS is in 28 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on mode of pathogenicity: Actvating mutation consequence from G2P. Comments from Reviewer: <5% of cases of CFC are caused by activating mutations in KRAS. activating mutations in the gene are also known to cause <5% of cases of Noonan syndrome. - Helen Savage (Congenica Ltd), Jan. 21, 2016, 10:28 a.m. Gain of function mutations in KRAS cause Noonan syndrome and Cardio-Facio-cutanenous syndrome. This disorders share phenotypes with Legius syndrome. No reports of mutations in KRAS causing Legius syndrome. - Helen Savage (Congenica Ltd), Jan. 25, 2016, 11:43 a.m. Gain of function mutations in KRAS are found in up to 5% of patients with Noonan syndrome and up to 5% of patients with CFC. - Helen Savage (Congenica Ltd), Jan. 21, 2016, 1:26 p.m.Created: 5 Feb 2016, 12:14 p.m.
Comment on mode of inheritance: Monoallelic confirmed in G2P, and not on imprinted gene list.Created: 4 Feb 2016, 3:56 p.m.
Helen Savage (Congenica Ltd)
Gain of function mutationsCreated: 1 Feb 2016, 10:43 a.m.
Phenotypes
Noonan syndrome; Cardio-Facio-cutanenous syndrome
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Eligibility statement prior genetic testing
- Phenotypes
-
- Noonan syndrome 3 609942
- Cardiofaciocutaneous syndrome 2 615278
- OMIM
- 190070
- Clinvar variants
- Variants in KRAS
- Penetrance
- Complete
- Publications
-
- PMID: 21396583
- 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
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- Cytopenias and congenital anaemias
- Hereditary neuropathy
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Multiple monogenic benign skin tumours
- Early onset or syndromic epilepsy
- DDG2P
- Sarcoma cancer susceptibility
- Intellectual disability
- Pigmentary skin disorders
- Monogenic short stature
- COVID-19 research
- Osteogenesis imperfecta
- Fetal hydrops
- Familial rhabdomyosarcoma
- Segmental overgrowth disorders - Deep sequencing
- Sarcoma susceptibility
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Mosaic skin disorders - deep sequencing
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Neurological segmental overgrowth
- Primary lymphoedema
- Childhood solid tumours cancer susceptibility
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: KRAS were changed from Noonan syndrome 3; Noonan syndrome; Cardiofaciocutaneous syndrome 2; Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome; CFC syndrome to Noonan syndrome 3 609942; Cardiofaciocutaneous syndrome 2 615278
Set publications
Ellen McDonagh (Genomics England Curator)Publications for KRAS were set to PMID: 21396583
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for KRAS were set to Noonan syndrome 3; Noonan syndrome; Cardiofaciocutaneous syndrome 2; Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome; CFC syndrome
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for KRAS were set to Noonan syndrome 3; Noonan syndrome 3; Noonan Spectrum Disorders; Cardiofaciocutaneous syndrome 2; Cardiofaciocutaneous Syndrome; Noonan Spectrum Disorders; Noonan syndrome; Noonan syndrome plus other features; Cardio-facio-cutaneous syndrome; Legius syndrome; Costello syndrome; LEOPARD syndrome; Noonan syndrome
Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)Mode of pathogenicity for KRAS was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for KRAS was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene KRAS were set to Noonan syndrome 3, ;Noonan syndrome 3; Noonan Spectrum Disorders;Cardiofaciocutaneous syndrome 2; Cardiofaciocutaneous Syndrome;Noonan Spectrum Disorders;Noonan syndrome;Noonan syndrome plus other features;Cardio-facio-cutaneous syndrome;Legius syndrome;Costello syndrome;LEOPARD syndrome
Upload gene information
Ellen McDonagh (Genomics England Curator)KRAS was added to RASopathiespanel. Sources: Eligibility statement prior genetic testing,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
clearsources
Ellen McDonagh (Genomics England Curator)KRASAll sources for gene: KRAS were removed
Added New Source
Ellen McDonagh (Genomics England Curator)KRAS was added to RASopathiespanel. Source: Emory Genetics Laboratory
Added New Source
Ellen McDonagh (Genomics England Curator)KRAS was added to RASopathiespanel. Source: Illumina TruGenome Clinical Sequencing Services KRAS was added to RASopathiespanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)KRAS was added to RASopathiespanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)KRAS was added to RASopathiespanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Eligibility statement prior genetic testing
Created
Ellen McDonagh (Genomics England Curator)KRAS was created by ellenmcdonagh