Hypertrophic cardiomyopathy - teen and adult

Gene: BRAF

Red List (low evidence)

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

2 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

Cardiofaciocutaneous syndrome (115150)
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

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 BRAF. Mode of inheritance for gene BRAF was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

13 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

BRAF was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list