IUGR and IGF abnormalities
Gene: RAF1EnsemblGeneIds (GRCh38): ENSG00000132155
EnsemblGeneIds (GRCh37): ENSG00000132155
OMIM: 164760, Gene2Phenotype
RAF1 is in 19 panels
2 reviews
Philip Murray (University of Manchester)
Peter Clayton (University of Manchester)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Rasopathy
- OMIM
- 164760
- Clinvar variants
- Variants in RAF1
- Penetrance
- Complete
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Pigmentary skin disorders
- Primary lymphoedema
- Dilated Cardiomyopathy and conduction defects
- Neurofibromatosis Type 1
- Fetal hydrops
- Fetal anomalies
- Childhood solid tumours
- Monogenic short stature
- Osteogenesis imperfecta
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Hypertrophic cardiomyopathy
- DDG2P
- Hereditary neuropathy
- Childhood solid tumours cancer susceptibility
History Filter Activity
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
emma baple (Genomics England Curator)Phenotypes for RAF1 were set to Rasopathy
Set Mode of Inheritance
emma baple (Genomics England Curator)Mode of inheritance for RAF1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()RAF1 was added to IUGR and IGF abnormalitiespanel. Sources: Emory Genetics Laboratory