Pigmentary skin disorders
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
2 reviews
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: KRAS; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 31 Jan 2019, 11:31 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- NOONAN SYNDROME 3, CARDIOFACIOCUTANEOUS SYNDROME 2
- NOONAN SYNDROME 3, 609942
- CFC2
- OMIM
- 190070
- Clinvar variants
- Variants in KRAS
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intellectual disability
- DDG2P
- Mosaic skin disorders - deep sequencing
- Pigmentary skin disorders
- Fetal hydrops
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Familial rhabdomyosarcoma
- RASopathies
- IUGR and IGF abnormalities
- Hereditary neuropathy
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Primary lymphoedema
- Multiple monogenic benign skin tumours
- Sarcoma cancer susceptibility
- Early onset or syndromic epilepsy
- Cytopenias and congenital anaemias
- COVID-19 research
- Paediatric or syndromic cardiomyopathy
- Neurological segmental overgrowth
- Segmental overgrowth disorders - Deep sequencing
- Embryonal tumour of possible germline origin
- Hereditary neuropathy or pain disorder
- Sarcoma susceptibility
- Osteogenesis imperfecta
- Monogenic short stature
- Adult solid tumours cancer susceptibility
- Childhood solid tumours
- Sarcoma of possible germline origin
- Primary immunodeficiency or monogenic inflammatory bowel disease
History Filter Activity
12 Dec 2019, Gel status: 3
Set mode of inheritance, Set Phenotypes, Set publications
Catherine Snow (Genomics England)Mode of inheritance for gene KRAS was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes NOONAN SYNDROME 3, CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2 for gene: KRAS Publications for gene KRAS were changed from to 16474404; 19396835; 17468812
18 Feb 2019, Gel status: 4
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to KRAS.
31 Jan 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: KRAS was added gene: KRAS was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: KRAS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: KRAS were set to NOONAN SYNDROME 3, 609942