Monogenic short stature
Gene: KRASEnsemblGeneIds (GRCh38): ENSG00000133703
EnsemblGeneIds (GRCh37): ENSG00000133703
OMIM: 190070, Gene2Phenotype
KRAS is in 30 panels
1 review
Rebecca Foulger (Genomics England curator)
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that genes associated with RASopathies should be included on this panel, excluding NF1. Therefore kept on the panel as a Green gene.Created: 30 May 2019, 9:54 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Noonan syndrome 3; Noonan syndrome; Cardiofaciocutaneous syndrome 2; Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome; CFC 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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Cardiofaciocutaneous syndrome 2, OMIM:615278
- Noonan syndrome 3, OMIM:609942
- OMIM
- 190070
- Clinvar variants
- Variants in KRAS
- Penetrance
- None
- 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
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Pigmentary skin disorders
- Fetal hydrops
- Paediatric or syndromic cardiomyopathy
- Familial rhabdomyosarcoma
- Segmental overgrowth disorders - Deep sequencing
- Embryonal tumour of possible germline origin
- Early onset or syndromic epilepsy
- RASopathies
- IUGR and IGF abnormalities
- Mosaic skin disorders - deep sequencing
- DDG2P
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Intellectual disability
- Cytopenias and congenital anaemias
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Hereditary neuropathy
- Multiple monogenic benign skin tumours
- Sarcoma cancer susceptibility
- COVID-19 research
- Monogenic short stature
- Childhood solid tumours
- Sarcoma susceptibility
- Osteogenesis imperfecta
- Hereditary neuropathy or pain disorder
- Adult solid tumours cancer susceptibility
- Primary lymphoedema
- Sarcoma of possible germline origin
- Neurological segmental overgrowth
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Arina Puzriakova (Genomics England Curator)gene: KRAS was added gene: KRAS was added to Monogenic short stature. Sources: Expert Review Green Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRAS were set to 21396583 Phenotypes for gene: KRAS were set to Cardiofaciocutaneous syndrome 2, OMIM:615278; Noonan syndrome 3, OMIM:609942 Mode of pathogenicity for gene: KRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments