Paediatric disorders - additional genes
Gene: BRF2

BRF2 (BRF2, RNA polymerase III transcription initiation factor subunit)
EnsemblGeneIds (GRCh38): ENSG00000104221
EnsemblGeneIds (GRCh37): ENSG00000104221
OMIM: 607013, Gene2Phenotype
BRF2 is in 5 panels

1 review

Ida Ertmanska (Genomics England Curator)

Comment on list classification: There are at least 4 unrelated families with biallelic BRF2 variants and multiple congenital anomalies (+ multiple Icelandic families with a founder splice variant). The findings are not consistent and include facial dysmorphism, immunodeficiency, ID, skin rashes, contractures, polydactyly, and more. The gene has been tagged for promotion to Green on Intellectual disability, which ensures inclusion on R27. Hence, added a curated_removed tag and rated Grey on this panel.
Created: 27 Mar 2026, 5:27 p.m. | Last Modified: 27 Mar 2026, 5:28 p.m.

Panel Version: 7.41

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042; intellectual disability, MONDO:0001071

Publications

Created: 27 Mar 2026, 5:27 p.m.
Last Modified: 27 Mar 2026, 5:28 p.m.
Panel version: 7.41

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Removed
Literature

Phenotypes

multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042

Tags

curated_removed

OMIM

607013

Clinvar variants

Variants in BRF2

Penetrance

None

Publications

Panels with this gene