Cytopenias and congenital anaemias
Gene: KRASEnsemblGeneIds (GRCh38): ENSG00000133703
EnsemblGeneIds (GRCh37): ENSG00000133703
OMIM: 190070, Gene2Phenotype
KRAS is in 30 panels
2 reviews
Helen Brittain (Genomics England Curator)
Germline mutations are associated with CFC / Noonan (Rasopathy) spectrum which present in different ways to haematological dysfunction. Somatic mutations of the rasopathy genes are implicated in haematological malignancy but this is out of scope for the panel.Created: 9 Mar 2017, 4:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardiofaciocutaneous syndrome 2 615278; Noonan syndrome 3 609942
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- BRIDGE consortium (NIHRBR-RD)
- Phenotypes
-
- Myelodysplastic syndrome (MDS), Paediatric
- OMIM
- 190070
- Clinvar variants
- Variants in KRAS
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Multiple monogenic benign skin tumours
- Primary lymphoedema
- Adult solid tumours cancer susceptibility
- Osteogenesis imperfecta
- Mosaic skin disorders - deep sequencing
- DDG2P
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Hereditary neuropathy
- Segmental overgrowth disorders - Deep sequencing
- Fetal hydrops
- Familial rhabdomyosarcoma
- Sarcoma of possible germline origin
- RASopathies
- IUGR and IGF abnormalities
- Pigmentary skin disorders
- Childhood solid tumours cancer susceptibility
- Embryonal tumour of possible germline origin
- Intellectual disability
- Monogenic short stature
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Hereditary neuropathy or pain disorder
- Early onset or syndromic epilepsy
- Sarcoma cancer susceptibility
- Cytopenias and congenital anaemias
- COVID-19 research
- Neurological segmental overgrowth
- Fetal anomalies
- Sarcoma susceptibility
- Childhood solid tumours
- Paediatric or syndromic cardiomyopathy
History Filter Activity
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Set Mode of Inheritance, Added New Source
Sarah Leigh (Genomics England Curator)KRAS was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Red Model of inheritance for gene KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Louise Daugherty (Genomics England Curator)KRAS was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)
Created
Louise Daugherty (Genomics England Curator)KRAS was created by LouiseD