Pigmentary skin disorders
Gene: RAF1EnsemblGeneIds (GRCh38): ENSG00000132155
EnsemblGeneIds (GRCh37): ENSG00000132155
OMIM: 164760, Gene2Phenotype
RAF1 is in 19 panels
2 reviews
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
LEOPARD SYNDROME 2; LPRD2, NOONAN SYNDROME 5; NS5
Publications
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: RAF1; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 31 Jan 2019, 11:31 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- NS5
- Noonan syndrome with lentigines (LEOPARD)
- LEOPARD SYNDROME 2
- Noonan syndrome
- LPRD2, NOONAN SYNDROME 5
- OMIM
- 164760
- Clinvar variants
- Variants in RAF1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intellectual disability
- DDG2P
- Dilated Cardiomyopathy and conduction defects
- Paediatric or syndromic cardiomyopathy
- Pigmentary skin disorders
- Neurofibromatosis Type 1
- Fetal hydrops
- Hereditary neuropathy or pain disorder
- Hypertrophic cardiomyopathy
- Osteogenesis imperfecta
- Monogenic short stature
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Childhood solid tumours
- Hereditary neuropathy
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Primary lymphoedema
History Filter Activity
Set Phenotypes, Set publications
Catherine Snow (Genomics England)Added phenotypes LPRD2, NOONAN SYNDROME 5; LEOPARD SYNDROME 2; NS5 for gene: RAF1 Publications for gene RAF1 were changed from to 17603483
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to RAF1.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: RAF1 was added gene: RAF1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RAF1 were set to Noonan syndrome; Noonan syndrome with lentigines (LEOPARD)