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Cardiomyopathies - including childhood onset

Gene: RAF1

Green List (high evidence)

RAF1 (Raf-1 proto-oncogene, serine/threonine kinase)
EnsemblGeneIds (GRCh38): ENSG00000132155
EnsemblGeneIds (GRCh37): ENSG00000132155
OMIM: 164760, Gene2Phenotype
RAF1 is in 20 panels

4 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16

Rebecca Whittington (South West GLH)

Green List (high evidence)

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: 10 probands age of onset of DCM from 1 year to 40 years, some segregation and functional studies in zebra fish. Kneitel et al (2015) Fetal Pediatr Pathol 34(6):361.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Ellen McDonagh (Genomics England Curator)

Comment on mode of pathogenicity: Activating mutations are indicated in G2P as mutation consequence for noonan syndrome. Comments from reviewer:
Gain of function mutations in RAF1 are reported to cause up to 3% of cases of LEOPARD syndrome. - Helen Savage (Congenica Ltd), Jan. 21, 2016, 11:27 a.m.
Gain of function mutations in RAF1 cause Noonan syndrome and LEOPARD syndrome. These disorders share phenotypes with Legius syndrome. Mutations in RAF1 have not been reported to cause Legius syndrome. - Helen Savage (Congenica Ltd), Jan. 25, 2016, 11:50 a.m.
Gain of function mutations in RAF1 cause ~10% of Noonan syndrome cases and ~1% of LEOPARD syndrome cases. - Helen Savage (Congenica Ltd), Jan. 21, 2016, 2:20 p.m.

Created: 5 Feb 2016, 12:41 p.m.
Comment on mode of inheritance: Confirmed on G2P, and checked imprinted gene list.
Created: 5 Feb 2016, 8:15 a.m.

Helen Savage (Congenica Ltd)

Green List (high evidence)

Gain of function mutations
Created: 1 Feb 2016, 10:51 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Noonan syndrome; LEOPARD syndrome

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
  • NHS GMS
  • Expert List
  • South West GLH
  • London South GLH
  • Expert Review Green
Phenotypes
  • Noonan syndrome 5
  • Noonan syndrome
  • Noonan syndrome 5 611553
  • LEOPARD syndrome 2 611554
  • syndromic HCM
  • LEOPARD syndrome
  • LEOPARD syndrome 2
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

History Filter Activity

2 Dec 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to RAF1.

4 Sep 2019, Gel status: 3

Added New Source, Set mode of pathogenicity, Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

Source Expert List was added to RAF1. Mode of pathogenicity for gene RAF1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Noonan syndrome 5 611553; LEOPARD syndrome 2 611554 for gene: RAF1 Publications for gene RAF1 were changed from PMID: 17603483; 17603482 to 17603483; 17603482

4 Sep 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: RAF1 was added gene: RAF1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH Mode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RAF1 were set to PMID: 17603483; 17603482 Phenotypes for gene: RAF1 were set to Noonan syndrome; Noonan syndrome 5; syndromic HCM; LEOPARD syndrome; LEOPARD syndrome 2