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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 20 panels

1 review

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London South GLH
  • South West GLH
  • Expert Review Green
Phenotypes
  • syndromic HCM
  • LEOPARD Syndrome
  • Cardiofaciocutaneous Syndrome
  • LEOPARD syndrome 3
  • Noonan Syndrome
  • Cardio-facio-cutaneous syndrome
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

25 Mar 2019, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to BRAF.

8 Mar 2019, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to BRAF.

28 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against the component panels and ready to promote to version 1.

17 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes syndromic HCM for gene: BRAF

17 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: BRAF was added gene: BRAF was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BRAF were set to PMID: 19206169; 21396583 Phenotypes for gene: BRAF were set to Noonan Syndrome; Cardio-facio-cutaneous syndrome; LEOPARD Syndrome; LEOPARD syndrome 3; Cardiofaciocutaneous Syndrome Mode of pathogenicity for gene: BRAF was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments