Hereditary neuropathy
Gene: KRAS
KRAS (KRAS proto-oncogene, GTPase)
EnsemblGeneIds (GRCh38): ENSG00000133703
EnsemblGeneIds (GRCh37): ENSG00000133703
OMIM: 190070, Gene2Phenotype
KRAS is in 30 panels
EnsemblGeneIds (GRCh38): ENSG00000133703
EnsemblGeneIds (GRCh37): ENSG00000133703
OMIM: 190070, Gene2Phenotype
KRAS is in 30 panels
5 reviews
Louise Daugherty (Genomics England Curator)
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
Natalie Forrester (SWGLH - Bristol Genetics)
Unable to find any evidence of clear neuropathy associationCreated: 29 Apr 2019, 12:30 p.m.
Phenotypes
Cardiomyopathy
Rita Horvath (Institute of Genetic Medicine, Newcastle University)
Alexander Rossor (UCL Institute of Neurology)
Not a CMT geneCreated: 9 Dec 2015, 8:49 a.m.
Mary Reilly (Institute of Neurology)
Not a CMT geneCreated: 8 Dec 2015, 3:06 p.m.
Details
- Sources
-
- NHS GMS
- South West GLH
- Emory Genetics Laboratory
- Phenotypes
-
- Cardiomyopathy
- OMIM
- 190070
- Clinvar variants
- Variants in KRAS
- Penetrance
- Complete
- Panels with this gene
-
- Monogenic short stature
- Intellectual disability
- Early onset or syndromic epilepsy
- Adult solid tumours cancer susceptibility
- Osteogenesis imperfecta
- Embryonal tumour of possible germline origin
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Primary lymphoedema
- Neurological segmental overgrowth
- Fetal hydrops
- Familial rhabdomyosarcoma
- Sarcoma of possible germline origin
- Hereditary neuropathy
- RASopathies
- Primary immunodeficiency or monogenic inflammatory bowel disease
- IUGR and IGF abnormalities
- DDG2P
- Childhood solid tumours cancer susceptibility
- Segmental overgrowth disorders - Deep sequencing
- Paediatric or syndromic cardiomyopathy
- Sarcoma cancer susceptibility
- Pigmentary skin disorders
- Cytopenias and congenital anaemias
- COVID-19 research
- Mosaic skin disorders - Deep sequencing
- Sarcoma susceptibility
- Hereditary neuropathy or pain disorder
- Childhood solid tumours
- Multiple monogenic benign skin tumours
- Fetal anomalies
History Filter Activity
29 Apr 2019, Gel status: 1
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Cardiomyopathy for gene: KRAS
29 Apr 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to KRAS.
29 Apr 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to KRAS.
20 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)KRAS was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory