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Genetic Epilepsy

Gene: KRAS

Green List (high evidence)

KRAS (KRAS proto-oncogene, GTPase)
EnsemblGeneIds (GRCh38): ENSG00000133703
EnsemblGeneIds (GRCh37): ENSG00000133703
OMIM: 190070, Gene2Phenotype
KRAS is in 21 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 37126322 - somatic variants Drug-Resistant mesial temporal lobe epilepsy, variants are all located in mutational hot spots for cancer and neurodevelopmental disorders. Probands x2 (p.G12D) had mesial temporal sclerosis and/or focal cortical dysplasia

PMID: 37722300 - 14-month-old boy with Schimmelpenning syndrome (KRAS p.G12D, postzygotic somatic mutation) with refractory epilepsy
Created: 6 Dec 2023, 12:27 a.m. | Last Modified: 6 Dec 2023, 12:27 a.m.
Panel Version: 0.1994
GoF is the only one reported
* Several missenses have moderate GoF
* It was suggested that somatic or germline GoF could have different mechanisms
Created: 22 May 2020, 5:52 a.m. | Last Modified: 22 May 2020, 5:52 a.m.
Panel Version: 0.2861

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Oculoectodermal syndrome, somatic MIM#600268; Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic MIM#163200

Publications

Mode of pathogenicity
Other

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
Phenotypes
  • Oculoectodermal syndrome, somatic MIM#600268
  • Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic MIM#163200
Tags
somatic
OMIM
190070
Clinvar variants
Variants in KRAS
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

6 Dec 2023, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag somatic tag was added to gene: KRAS.

6 Dec 2023, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: kras has been classified as Green List (High Evidence).

6 Dec 2023, Gel status: 3

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: KRAS were changed from to Oculoectodermal syndrome, somatic MIM#600268; Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic MIM#163200

6 Dec 2023, Gel status: 3

Set publications

Elena Savva (Victorian Clinical Genetics Services)

Publications for gene: KRAS were set to

6 Dec 2023, Gel status: 3

Set mode of pathogenicity

Elena Savva (Victorian Clinical Genetics Services)

Mode of pathogenicity for gene: KRAS was changed from to Other

6 Dec 2023, Gel status: 3

Set mode of inheritance

Elena Savva (Victorian Clinical Genetics Services)

Mode of inheritance for gene: KRAS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KRAS was added gene: KRAS was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KRAS was set to Unknown