Activity

Filter

Cancel
Date Panel Item Activity
9 actions
Genetic Epilepsy v0.1995 KRAS Zornitza Stark Tag somatic tag was added to gene: KRAS.
Genetic Epilepsy v0.1995 KRAS Elena Savva Marked gene: KRAS as ready
Genetic Epilepsy v0.1995 KRAS Elena Savva Gene: kras has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1995 KRAS Elena Savva Phenotypes for gene: KRAS were changed from to Oculoectodermal syndrome, somatic MIM#600268; Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic MIM#163200
Genetic Epilepsy v0.1995 KRAS Elena Savva Publications for gene: KRAS were set to
Genetic Epilepsy v0.1995 KRAS Elena Savva Mode of pathogenicity for gene: KRAS was changed from to Other
Genetic Epilepsy v0.1995 KRAS Elena Savva Mode of inheritance for gene: KRAS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Genetic Epilepsy v0.1994 KRAS Elena Savva edited their review of gene: KRAS: Added comment: 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; Changed publications: PMID: 37126322, 37722300; Changed phenotypes: Oculoectodermal syndrome, somatic MIM#600268, Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic MIM#163200
Genetic Epilepsy v0.0 KRAS Zornitza Stark 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