Growth failure
Gene: RAF1EnsemblGeneIds (GRCh38): ENSG00000132155
EnsemblGeneIds (GRCh37): ENSG00000132155
OMIM: 164760, Gene2Phenotype
RAF1 is in 16 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Over 20 affected individuals reported. Short stature is a key feature.Created: 11 Sep 2020, 11:04 a.m. | Last Modified: 6 Aug 2021, 8:04 a.m.
Panel Version: 0.66
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Noonan syndrome 5, MIM# 611553
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
- Genomics England PanelApp
- Victorian Clinical Genetics Services
- Phenotypes
-
- Noonan syndrome 5, MIM# 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
-
- Growth failure
- Hypertrophic cardiomyopathy_HCM
- Rasopathy
- Deafness_IsolatedAndComplex
- Cardiomyopathy_Paediatric
- Lymphoedema_syndromic
- BabyScreen+ newborn screening
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Cancer Predisposition_Paediatric
- Macrocephaly_Megalencephaly
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Mendeliome
- Callosome
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: raf1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: RAF1 were changed from Noonan syndrome 5; Noonan syndrome; LEOPARD syndrome 2; Rasopathy; LEOPARD syndrome to Noonan syndrome 5, MIM# 611553
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: RAF1 were set to 17603483; 17603482
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: RAF1 was added gene: RAF1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,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 Noonan syndrome 5; Noonan syndrome; LEOPARD syndrome 2; Rasopathy; LEOPARD syndrome 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