Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: BRAF

BRAF (B-Raf proto-oncogene, serine/threonine kinase)
EnsemblGeneIds (GRCh38): ENSG00000157764
EnsemblGeneIds (GRCh37): ENSG00000157764
OMIM: 164757, Gene2Phenotype
BRAF is in 25 panels

1 review

Isaac ‎Machado Azevedo (Independent Researcher)

I don't know

At least 37 molecularly-confirmed germline BRAF patients (cardiofaciocutaneous syndrome 1) with cohort-level immune data (PMID 40692796, n=56 CFCS cohort, 37 BRAF), AD de novo. T-cell lymphopenia and hypogammaglobulinemia reported; no OMIM entry currently lists the immune phenotype. Distinct from somatic BRAF cancer mechanism (out of scope).
Created: 6 Oct 2026, 6:07 p.m. | Last Modified: 6 Oct 2026, 6:07 p.m.

Panel Version: 9.109

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Created: 6 Oct 2026, 6:07 p.m.
Last Modified: 6 Oct 2026, 6:07 p.m.
Panel version: 9.109

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Literature

OMIM

164757

Clinvar variants

Variants in BRAF

Penetrance

None

Panels with this gene

History Filter Activity

6 Oct 2026, Gel status: 1

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: BRAF was added gene: BRAF was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Primary immunodeficiency or monogenic inflammatory bowel disease Gene: BRAF