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Fetal anomalies

Gene: BRF1

Green List (high evidence)
BRF1 (BRF1, RNA polymerase III transcription initiation factor subunit)
EnsemblGeneIds (GRCh38): ENSG00000185024
EnsemblGeneIds (GRCh37): ENSG00000185024
OMIM: 604902, Gene2Phenotype
BRF1 is in 6 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 10 Mar 2026, 12:27 p.m. | Last Modified: 10 Mar 2026, 12:27 p.m.
Panel Version: 6.149
This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.150

Stephanie Allen (Birmingham Women's NHS Foundation Trust)

Green List (high evidence)

Green on ID panel; Amber FA panel last reviewed Aug 24. Comment - include if isolated microcephaly added to eligibility. New paper PMID: 40657982 Cerebellofaciodental syndrome (CFDS) To date, only 15 cases have been reported in the literature. Characterized by dysmorphic features, microcephaly, short stature, intellectual disability, and central nervous system anomalies. Describe a single case presenting antenatally with short long bones, restricted limb movements, and growth restriction. After birth, the infant exhibited facial dysmorphism, microcephaly, a bell-shaped thorax, short extremities, brachydactyly, clinodactyly. Although only single antenatal case, think we should add now due to rarity and that associated with SLBs.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebellofaciodental syndrome, OMIM:616202

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
This review was provided by Alison Male from North Thames GLH: Microcephaly apparent antenatally. Amber unless isolated microcephaly on R21 eligibility criteria
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebellofaciodental syndrome, OMIM:616202

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.36

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cerebellofaciodental syndrome, OMIM:616202
OMIM
604902
Clinvar variants
Variants in BRF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Cerebellofaciodental syndrome, OMIM:616202 for gene: BRF1

9 Mar 2026, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to BRF1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

29 Aug 2024, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: BRF1 was added gene: BRF1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: BRF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BRF1 were set to 27748960; 25561519 Phenotypes for gene: BRF1 were set to Cerebellofaciodental syndrome, OMIM:616202