Hypertrophic cardiomyopathy - teen and adult

Gene: RAF1

Red List (low evidence)

RAF1 (Raf-1 proto-oncogene, serine/threonine kinase)
EnsemblGeneIds (GRCh38): ENSG00000132155
EnsemblGeneIds (GRCh37): ENSG00000132155
OMIM: 164760, Gene2Phenotype
RAF1 is in 19 panels

2 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

Noonan syndrome 5 (611553); LEOPARD syndrome 2 (611554); Cardiomyopathy, dilated, 1NN (615916)
Created: 25 Mar 2019, 4:30 p.m.
May be a rare DCM gene. Pandit et al (2007) Nat Genet 39(8):1007. Dhandapandy et al (2014) Nat Genet 46(6): 635. Kneitel et al (2015) Fetal Pediatr Pathol 34(6):361. Is a rasopathy gene also. No evidence for HCM
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

I don't know

History Filter Activity

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to RAF1. Mode of inheritance for gene RAF1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

13 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

RAF1 was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list