Mosaic skin disorders - deep sequencing
Gene: KRASEnsemblGeneIds (GRCh38): ENSG00000133703
EnsemblGeneIds (GRCh37): ENSG00000133703
OMIM: 190070, Gene2Phenotype
KRAS is in 30 panels
2 reviews
Tom Cullup (Great Ormond Street Hospital)
G12DCreated: 5 Dec 2019, 3:40 p.m. | Last Modified: 5 Dec 2019, 3:40 p.m.
Panel Version: 0.16
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epidermal naevi; Schimmelpenning syndrome
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
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, 2:50 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Schimmelpenning syndrome
- Epidermal naevi
- 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
- 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
- Fetal anomalies
- Neurological segmental overgrowth
- Hereditary neuropathy or pain disorder
- Segmental overgrowth disorders - Deep sequencing
- Embryonal tumour of possible germline origin
- 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
Set publications
Catherine Snow (Genomics England)Publications for gene KRAS were changed from to 22499344; 22683711
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to KRAS.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: KRAS was added gene: KRAS was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KRAS were set to Schimmelpenning syndrome; Epidermal naevi