Primary lymphoedema
Gene: RAF1EnsemblGeneIds (GRCh38): ENSG00000132155
EnsemblGeneIds (GRCh37): ENSG00000132155
OMIM: 164760, Gene2Phenotype
RAF1 is in 19 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment on list classification: Based on recommendation from Sahar Mansour (St George's Hospital, London).Created: 27 Jun 2019, 3:49 p.m. | Last Modified: 27 Jun 2019, 3:49 p.m.
Panel Version: 1.70
Sahar Mansour (St George's Hospital, London)
Green gene from RASopathies (Version 1.55)(https://panelapp.genomicsengland.co.uk/panels/48/). Gain of function variants cause LEOPARD syndrome 2 611554 and Noonan syndrome 5 611553Created: 27 Jun 2019, 3:36 p.m. | Last Modified: 27 Jun 2019, 3:36 p.m.
Panel Version: 1.45
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
LEOPARD syndrome 2 611554; Noonan syndrome 5 611553
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Noonan syndrome 5 611553
- LEOPARD syndrome 2 611554
- OMIM
- 164760
- Clinvar variants
- Variants in RAF1
- Penetrance
- None
- 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
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: raf1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity
Sarah Leigh (Genomics England Curator)gene: RAF1 was added gene: RAF1 was added to Primary lymphoedema. Sources: Expert Review Mode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RAF1 were set to Noonan syndrome 5 611553; LEOPARD syndrome 2 611554 Mode of pathogenicity for gene: RAF1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments