Familial rhabdomyosarcoma
Gene: KRASEnsemblGeneIds (GRCh38): ENSG00000133703
EnsemblGeneIds (GRCh37): ENSG00000133703
OMIM: 190070, Gene2Phenotype
KRAS is in 30 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
-
- Adult solid tumours cancer susceptibility
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Embryonal tumour of possible germline origin
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Primary lymphoedema
- Neurological segmental overgrowth
- Pigmentary skin disorders
- Fetal hydrops
- Familial rhabdomyosarcoma
- Hereditary neuropathy or pain disorder
- Sarcoma of possible germline origin
- Monogenic short stature
- Hereditary neuropathy
- RASopathies
- IUGR and IGF abnormalities
- DDG2P
- Childhood solid tumours cancer susceptibility
- Intellectual disability
- Segmental overgrowth disorders - Deep sequencing
- Paediatric or syndromic cardiomyopathy
- Sarcoma cancer susceptibility
- Cytopenias and congenital anaemias
- COVID-19 research
- Osteogenesis imperfecta
- Mosaic skin disorders - Deep sequencing
- Sarcoma susceptibility
- Fetal anomalies
- Childhood solid tumours
- Multiple monogenic benign skin tumours
- Early onset or syndromic epilepsy
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