Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: KRAS
Ueda et al 2017 - decsribe 2 patients with mutations in KRAS and CSS. 6 other cases reported. No LOF/fs reported. ; Review on behalf of Tracy Lester/Andrew WilkieCreated: 5 Mar 2019, 11:33 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Noonan syndrome type 3 - 609942; cardiofaciocutaneous syndrome type 2 - 615278
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: KRAS; Suggested initial gene rating: greenCreated: 5 Mar 2019, 11:21 a.m.
KRAS is the Noonan gene most frequently associated with craniosynostosis. Mostly missense mutations causing gain-of-function. Other clinical features of Noonan syndrome should be apparent.Created: 15 Sep 2015, 6:56 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Noonan syndrome
Publications
Mode of pathogenicity
Other
Added phenotypes Noonan syndrome type 3 609942; cardiofaciocutaneous syndrome type 2 615278 for gene: KRAS
Source NHS GMS was added to KRAS. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Phenotypes for KRAS were set to 609942; 615278
Phenotypes for KRAS were set to 609942
Publications for KRAS were set to 19396835; 22488932
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
This gene has been classified as Green List (High Evidence).
KRAS was added to Craniosynostosis syndromespanel. Sources: Expert list