Osteogenesis imperfecta
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 Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)
Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)
Remove from panelCreated: 27 Nov 2015, 3:04 p.m.
Details
- Sources
-
- Expert Review Removed
- Emory Genetics Laboratory
- Phenotypes
-
- Proportionate Short Stature/Small for Gestational Age
- Tags
- OMIM
- 190070
- Clinvar variants
- Variants in KRAS
- Penetrance
- Complete
- 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
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: KRAS.
12 May 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
12 May 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
20 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)KRAS was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory