Rare syndromic craniosynostosis or isolated multisuture synostosis

Gene: KRAS

Green List (high evidence)

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 Wilkie

Created: 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

• 19396835
• 22488932

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

I don't know

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: green

Created: 5 Mar 2019, 11:21 a.m.

Green List (high evidence)

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

• 19396835
• 22488932

Mode of pathogenicity
Other