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Cardiomyopathies - including childhood onset

Gene: BRAF

Green List (high evidence)

BRAF (B-Raf proto-oncogene, serine/threonine kinase)
EnsemblGeneIds (GRCh38): ENSG00000157764
EnsemblGeneIds (GRCh37): ENSG00000157764
OMIM: 164757, Gene2Phenotype
BRAF is in 23 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)

I don't know

OMIM#211980; Adenocarcinoma of lung, somatic; OMIM#115150 Cardiofaciocutaneous syndrome; OMIM#613707 Colorectal cancer, somatic; OMIM#613707 LEOPARD syndrome 3; OMIM# Melanoma, malignant, somatic; Nonsmall cell lung cancer, somatic; OMIM#613706 Noonan syndrome 7.
Created: 25 Mar 2019, 4:30 p.m.
Rasopathy gene. HCM reported in Cardiofaciocutaneous syndrome and other heart defects in Leopard Syndrome.
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

Ellen McDonagh (Genomics England Curator)

Comment on mode of pathogenicity: Missense variants are likely to be most relevant. Some variants found within Cardio-facio-cutaneous syndrome patients have been linked to gain-of-function, though some missense variants do not show increased BRAF activity in the publications. Reported as activating mutation consequence in G2P. Comments from reviewer: Gain of function mutations in BRAF cause Noonan syndrome, Cardio-Facio-cutanenous syndrome and LEOPARD syndrome. This disorders share phenotypes with Legius syndrome. - Helen Savage (Congenica Ltd), Jan. 22, 2016, 10:59 a.m. Gain of functions mutations in BRAF are reported to cause up to 2% of cases of Noonan syndrome. - Helen Savage (Congenica Ltd), Jan. 21, 2016, 11:48 a.m.
Created: 5 Feb 2016, 12:04 p.m.
Comment when marking as ready: This gene was promoted to green, as it has a strong evidence of being indicated in Noonan syndrome, LEOPARD syndrome and Cardio-facio-cutaneous syndrome, and as phenotypes are often difficult to distinguish, this gene should also be examined in patients recruited under the other rasopathy syndromes. This gene is part of the eligibility criteria for prior genetic testing of rasopathy patients.
Created: 4 Feb 2016, 3:33 p.m.

Helen Savage (Congenica Ltd)

Green List (high evidence)

Gain of function mutations
Created: 27 Jan 2016, 4 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Noonan syndrome; LEOPARD syndrome; Cardio-facio-cutaneous 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 7 613706
  • Cardio-facio-cutaneous syndrome
  • Cardiofaciocutaneous syndrome 115150
  • Noonan Syndrome
  • syndromic HCM
  • Cardiofaciocutaneous Syndrome
  • LEOPARD Syndrome
  • LEOPARD syndrome 3
  • LEOPARD syndrome 3 613707
OMIM
164757
Clinvar variants
Variants in BRAF
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 BRAF.

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 BRAF. Mode of pathogenicity for gene BRAF 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 7 613706; Cardiofaciocutaneous syndrome 115150; LEOPARD syndrome 3 613707 for gene: BRAF Publications for gene BRAF were changed from 21396583; PMID: 19206169 to 21396583; 19206169

4 Sep 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: BRAF was added gene: BRAF was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BRAF were set to 21396583; PMID: 19206169 Phenotypes for gene: BRAF were set to Noonan Syndrome; syndromic HCM; LEOPARD syndrome 3; LEOPARD Syndrome; Cardio-facio-cutaneous syndrome; Cardiofaciocutaneous Syndrome