Neurofibromatosis Type 1
Gene: RAF1
RAF1 (Raf-1 proto-oncogene, serine/threonine kinase)
EnsemblGeneIds (GRCh38): ENSG00000132155
EnsemblGeneIds (GRCh37): ENSG00000132155
OMIM: 164760, Gene2Phenotype
RAF1 is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000132155
EnsemblGeneIds (GRCh37): ENSG00000132155
OMIM: 164760, Gene2Phenotype
RAF1 is in 19 panels
1 review
Alice Gardham (Genomics England)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Noonan syndrome with multiple lentigines (LEOPARD syndrome), 151100
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- UKGTN
- Literature
- Expert Review
- Phenotypes
-
- Noonan syndrome with multiple lentigines (LEOPARD syndrome), 151100
- OMIM
- 164760
- Clinvar variants
- Variants in RAF1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Hereditary neuropathy or pain disorder
- Pigmentary skin disorders
- Primary lymphoedema
- Dilated Cardiomyopathy and conduction defects
- Neurofibromatosis Type 1
- Fetal hydrops
- Monogenic short stature
- Intellectual disability
- Childhood solid tumours
- Osteogenesis imperfecta
- DDG2P
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Hypertrophic cardiomyopathy
- Hereditary neuropathy
- Childhood solid tumours cancer susceptibility
- Fetal anomalies
History Filter Activity
14 Nov 2016, Gel status: 4
panel promoted to version 1
Alice Gardham (Genomics England)Panel finalised 14th November 2016
14 Nov 2016, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
14 Nov 2016, Gel status: 2
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Amber List (Moderate Evidence).
14 Nov 2016, Gel status: 2
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Amber List (Moderate Evidence).
14 Nov 2016, Gel status: 1
Added New Source
Alice Gardham (Genomics England)RAF1 was added to Neurofibromatosis Type 1panel. Sources: Expert Review,Literature,UKGTN
14 Nov 2016, Gel status: 0
Created
Alice Gardham (Genomics England)RAF1 was created by agardham