RASopathies
Gene: KRASComment 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.
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
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
Publications for KRAS were set to PMID: 21396583
Phenotypes for KRAS were set to Noonan syndrome 3; Noonan syndrome; Cardiofaciocutaneous syndrome 2; Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome; CFC syndrome
This gene has been classified as Green List (High Evidence).
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
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
Mode of inheritance for KRAS was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
KRAS was added to RASopathiespanel. Sources: Eligibility statement prior genetic testing,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
KRASAll sources for gene: KRAS were removed
KRAS was added to RASopathiespanel. Source: Emory Genetics Laboratory
KRAS was added to RASopathiespanel. Source: Illumina TruGenome Clinical Sequencing Services KRAS was added to RASopathiespanel. Source: Radboud University Medical Center, Nijmegen
KRAS was added to RASopathiespanel. Source: Radboud University Medical Center, Nijmegen
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
KRAS was created by ellenmcdonagh