RASopathies

Gene: KRAS

Green List (high evidence)

KRAS (KRAS proto-oncogene, GTPase)
EnsemblGeneIds (GRCh38): ENSG00000133703
EnsemblGeneIds (GRCh37): ENSG00000133703
OMIM: 190070, Gene2Phenotype
KRAS is in 30 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)

Green List (high evidence)

Gain of function mutations
Created: 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

History Filter Activity

13 Jun 2019, Gel status: 3

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

5 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for KRAS were set to PMID: 21396583

5 Feb 2016, Gel status: 4

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

4 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 Feb 2016, Gel status: 3

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

4 Feb 2016, Gel status: 3

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

4 Feb 2016, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for KRAS was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

2 Feb 2016, Gel status: 3

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

2 Feb 2016, Gel status: 3

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

2 Feb 2016, Gel status: 7

clearsources

Ellen McDonagh (Genomics England Curator)

KRASAll sources for gene: KRAS were removed

18 Nov 2015, Gel status: 6

Added New Source

Ellen McDonagh (Genomics England Curator)

KRAS was added to RASopathiespanel. Source: Emory Genetics Laboratory

18 Nov 2015, Gel status: 5

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

18 Nov 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

KRAS was added to RASopathiespanel. Source: Radboud University Medical Center, Nijmegen

18 Nov 2015, Gel status: 4

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

18 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

KRAS was created by ellenmcdonagh