Growth failure in early childhood
Gene: KRASEnsemblGeneIds (GRCh38): ENSG00000133703
EnsemblGeneIds (GRCh37): ENSG00000133703
OMIM: 190070, Gene2Phenotype
KRAS is in 28 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
-
- Cytopenias and congenital anaemias
- Hereditary neuropathy
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Multiple monogenic benign skin tumours
- Early onset or syndromic epilepsy
- DDG2P
- Sarcoma cancer susceptibility
- Intellectual disability
- Pigmentary skin disorders
- Monogenic short stature
- COVID-19 research
- Osteogenesis imperfecta
- Fetal hydrops
- Familial rhabdomyosarcoma
- Segmental overgrowth disorders - Deep sequencing
- Sarcoma susceptibility
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Mosaic skin disorders - deep sequencing
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Neurological segmental overgrowth
- Primary lymphoedema
- Childhood solid tumours cancer susceptibility
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: KRAS were changed from Rasopathy; Noonan syndrome; CFC syndrome; Cardiofaciocutaneous syndrome 2; Noonan syndrome 3; Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome to Cardiofaciocutaneous syndrome 2, OMIM:615278; Noonan syndrome 3, OMIM:609942
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: KRAS were set to
Set mode of pathogenicity, Set Phenotypes
Rebecca Foulger (Genomics England curator)Mode of pathogenicity for gene KRAS was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Noonan syndrome; CFC syndrome; Noonan syndrome 3; Cardiofaciocutaneous syndrome 2; Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome for gene: KRAS
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: KRAS was added gene: KRAS was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KRAS were set to Rasopathy