RASopathies
Gene: RAF1EnsemblGeneIds (GRCh38): ENSG00000132155
EnsemblGeneIds (GRCh37): ENSG00000132155
OMIM: 164760, Gene2Phenotype
RAF1 is in 19 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on mode of pathogenicity: Activating mutations are indicated in G2P as mutation consequence for noonan syndrome. Comments from reviewer:
Gain of function mutations in RAF1 are reported to cause up to 3% of cases of LEOPARD syndrome. - Helen Savage (Congenica Ltd), Jan. 21, 2016, 11:27 a.m.
Gain of function mutations in RAF1 cause Noonan syndrome and LEOPARD syndrome. These disorders share phenotypes with Legius syndrome. Mutations in RAF1 have not been reported to cause Legius syndrome. - Helen Savage (Congenica Ltd), Jan. 25, 2016, 11:50 a.m.
Gain of function mutations in RAF1 cause ~10% of Noonan syndrome cases and ~1% of LEOPARD syndrome cases. - Helen Savage (Congenica Ltd), Jan. 21, 2016, 2:20 p.m.
Created: 5 Feb 2016, 12:41 p.m.
Comment on mode of inheritance: Confirmed on G2P, and checked imprinted gene list.Created: 5 Feb 2016, 8:15 a.m.
Helen Savage (Congenica Ltd)
Gain of function mutationsCreated: 1 Feb 2016, 10:51 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Noonan syndrome; LEOPARD syndrome
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
- Eligibility statement prior genetic testing
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Phenotypes
-
- LEOPARD syndrome 2 611554
- Noonan syndrome 5 611553
- OMIM
- 164760
- Clinvar variants
- Variants in RAF1
- 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
-
- Hereditary neuropathy
- DDG2P
- Dilated Cardiomyopathy and conduction defects
- Intellectual disability
- Pigmentary skin disorders
- Monogenic short stature
- Osteogenesis imperfecta
- Neurofibromatosis Type 1
- Fetal hydrops
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Hypertrophic cardiomyopathy
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Primary lymphoedema
- Childhood solid tumours cancer susceptibility
History Filter Activity
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: RAF1 were set to PMID: 17603483; 17603482
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: RAF1 were changed from Noonan syndrome; Noonan syndrome 5; LEOPARD syndrome; LEOPARD syndrome 2 to LEOPARD syndrome 2 611554; Noonan syndrome 5 611553
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for RAF1 were set to Noonan syndrome; Noonan syndrome 5; LEOPARD syndrome; LEOPARD syndrome 2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for RAF1 were set to Noonan syndrome; LEOPARD syndrome; Noonan syndrome 5; Noonan Spectrum Disorders
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for RAF1 were set to Noonan syndrome; LEOPARD syndrome; Noonan syndrome 5
Set publications
Ellen McDonagh (Genomics England Curator)Publications for RAF1 were set to PMID: 17603483; 17603482
Set publications
Ellen McDonagh (Genomics England Curator)Publications for RAF1 were set to PMID: 17603483
Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)Mode of pathogenicity for RAF1 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for RAF1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Upload gene information
Ellen McDonagh (Genomics England Curator)RAF1 was added to RASopathiespanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Eligibility statement prior genetic testing,UKGTN
clearsources
Ellen McDonagh (Genomics England Curator)RAF1All sources for gene: RAF1 were removed
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene RAF1 were set to Noonan syndrome;Noonan syndrome 5, ;Noonan syndrome 5; Noonan Spectrum Disorders;LEOPARD syndrome 2, ;Noonan Spectrum Disorders;Noonan syndrome plus other features;LEOPARD syndrome;Legius syndrome;Costello syndrome;Cardio-facio-cutaneous syndrome
Upload gene information
Ellen McDonagh (Genomics England Curator)RAF1 was added to RASopathiespanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN,Eligibility statement prior genetic testing
clearsources
Ellen McDonagh (Genomics England Curator)RAF1All sources for gene: RAF1 were removed
Added New Source
Ellen McDonagh (Genomics England Curator)RAF1 was added to RASopathiespanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)RAF1 was added to RASopathiespanel. Source: Illumina TruGenome Clinical Sequencing Services RAF1 was added to RASopathiespanel. Source: Emory Genetics Laboratory
Added New Source
Ellen McDonagh (Genomics England Curator)RAF1 was added to RASopathiespanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)RAF1 was added to RASopathiespanel. Sources: Emory Genetics Laboratory,UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing
Created
Ellen McDonagh (Genomics England Curator)RAF1 was created by ellenmcdonagh