Dilated Cardiomyopathy and conduction defects

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 20 panels

1 review

Rebecca Whittington (South West GLH)

I don't know

Cardiomyopathy, dilated, 1NN OMIM#615916; LEOPARD syndrome 2 OMIM#611554; Noonan syndrome 5 OMIM#611553
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.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

21 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: RAF1 was added gene: RAF1 was added to Dilated cardiomyopathy - teen and adult. Sources: South West GLH Mode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted