Craniosynostosis
Gene: KRASEnsemblGeneIds (GRCh38): ENSG00000133703
EnsemblGeneIds (GRCh37): ENSG00000133703
OMIM: 190070, Gene2Phenotype
KRAS is in 21 panels
1 review
Tiong Tan (Victorian Clinical Genetics Services)
10% of all individuals with KRAS-related Noonan syndrome have craniosynostosis
Sources: LiteratureCreated: 16 Jun 2020, 12:10 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Noonan 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
- Literature
- Phenotypes
-
- Noonan syndrome
- OMIM
- 190070
- Clinvar variants
- Variants in KRAS
- Penetrance
- Complete
- 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
-
- Rasopathy
- Cardiomyopathy_Paediatric
- Incidentalome_PREGEN_DRAFT
- Lymphoedema_syndromic
- BabyScreen+ newborn screening
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Cancer Predisposition_Paediatric
- Vascular Malformations_Germline
- Macrocephaly_Megalencephaly
- Craniosynostosis
- Vascular Malformations_Somatic
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Autoimmune Lymphoproliferative Syndrome
- Mosaic skin disorders
- Mendeliome
- Callosome
- Growth failure
History Filter Activity
Entity classified by Genomics England curator
Tiong Tan (Victorian Clinical Genetics Services)Gene: kras has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Tiong Tan (Victorian Clinical Genetics Services)Gene: kras has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity
Tiong Tan (Victorian Clinical Genetics Services)gene: KRAS was added gene: KRAS was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRAS were set to 26249544; 28650561 Phenotypes for gene: KRAS were set to Noonan syndrome Penetrance for gene: KRAS were set to Complete 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 Review for gene: KRAS was set to GREEN