Early onset or syndromic epilepsy

Gene: KRAS

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor. Suggested gene rating: Green.

Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.

Panel Version: 1.189

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cardiofaciocutaneous syndrome, 615278

Publications

• 21686750
• 21871821

Comment on list classification: Promoted from amber to green as an additional report on a patient with a variant in the KRAS gene who also has seizures (PMID: 17601930).

Created: 26 Nov 2018, 4 p.m.

Comment on list classification: Cardiofaciocutaneous syndrome 2 was confirmed on both OMIM and Gene2Phenotype. One report (PMID: 16474405) found one proband with a missense variant in KRAS who had seizures. This is out of a cohort of 6 patients who have different missense variants in KRAS. Another study (PMID: 21871821) found a Japanese proband with a missense mutation in KRAS who have seizures. Both probands with seizures are from different countries; however, there is not enough evidence to promote the gene.

Created: 20 Nov 2018, 5:11 p.m.

Comment on mode of pathogenicity: Variants cause gain-of-function effects (PMID: 21871821, 23059812).

Created: 20 Nov 2018, 5:03 p.m.

Green List (high evidence)

Seizures are a common feature of CFC.

Created: 16 Aug 2018, 2:20 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cardiofaciocutaneous syndrome 2, MIM#615278

Variants in this GENE are reported as part of current diagnostic practice