Monogenic short stature
Gene: RAF1EnsemblGeneIds (GRCh38): ENSG00000132155
EnsemblGeneIds (GRCh37): ENSG00000132155
OMIM: 164760, Gene2Phenotype
RAF1 is in 19 panels
1 review
Rebecca Foulger (Genomics England curator)
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that genes associated with RASopathies should be included on this panel, excluding NF1. Therefore kept on the panel as a Green gene.Created: 30 May 2019, 9:54 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Noonan syndrome; Noonan syndrome 5; LEOPARD syndrome; LEOPARD syndrome 2
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- LEOPARD syndrome 2, OMIM:611554
- Noonan syndrome 5, OMIM:611553
- 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
- Fetal anomalies
- Dilated Cardiomyopathy and conduction defects
- Pigmentary skin disorders
- Monogenic short stature
- Osteogenesis imperfecta
- Neurofibromatosis Type 1
- Fetal hydrops
- Hereditary neuropathy or pain disorder
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Hypertrophic cardiomyopathy
- Paediatric or syndromic cardiomyopathy
- Primary lymphoedema
- Childhood solid tumours cancer susceptibility
- Intellectual disability
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Arina Puzriakova (Genomics England Curator)gene: RAF1 was added gene: RAF1 was added to Monogenic short stature. Sources: Expert Review Green Mode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RAF1 were set to 17603483; 17603482 Phenotypes for gene: RAF1 were set to LEOPARD syndrome 2, OMIM:611554; Noonan syndrome 5, OMIM:611553 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