Familial rhabdomyosarcoma
Gene: KRASEnsemblGeneIds (GRCh38): ENSG00000133703
EnsemblGeneIds (GRCh37): ENSG00000133703
OMIM: 190070, Gene2Phenotype
KRAS is in 28 panels
1 review
Helen Brittain (Genomics England Curator)
One case with associated rhabdomyosarcoma to date. Also a somatic mosaic variant.Created: 21 Dec 2017, 10:34 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Nevus, Epidermal 162900
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Nevus, Epidermal 162900
- OMIM
- 190070
- Clinvar variants
- Variants in KRAS
- Penetrance
- None
- Panels with this gene
-
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Multiple monogenic benign skin tumours
- Sarcoma cancer susceptibility
- Primary lymphoedema
- Cytopenias and congenital anaemias
- COVID-19 research
- Monogenic short stature
- Fetal hydrops
- Familial rhabdomyosarcoma
- Childhood solid tumours
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Segmental overgrowth disorders - Deep sequencing
- Sarcoma susceptibility
- Osteogenesis imperfecta
- Pigmentary skin disorders
- Hereditary neuropathy or pain disorder
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Mosaic skin disorders - deep sequencing
- Intellectual disability
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Hereditary neuropathy
- Early onset or syndromic epilepsy
- Neurological segmental overgrowth
- Childhood solid tumours cancer susceptibility
History Filter Activity
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)21st December 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation by Helen Brittain.
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for KRAS were set to Nevus, Epidermal 162900
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for KRAS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Louise Daugherty (Genomics England Curator)KRAS was added to Familial rhabdomyosarcoma panel. Sources: Literature
Created
Louise Daugherty (Genomics England Curator)KRAS was created by Louise Daugherty