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Prepair 1000+

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

1 review

Marta Cifuentes Ochoa (Victorian Clinical Genetics Services)

Green List (high evidence)

Cerebellofaciodental syndrome is an autosomal recessive neurodevelopmental disorder characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia.


HGNC approved symbol/name: BRF1

Is the phenotype(s) severe and onset <18yo ? Y

Known technical challenges? N

Gene reported in >3 independent families
Created: 14 Aug 2024, 2:08 a.m. | Last Modified: 14 Aug 2024, 2:08 a.m.
Panel Version: 1.159

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebellofaciodental syndrome, MIM# 616202; Cerebellar-facial-dental syndrome MONDO:0014529

Publications

Created: 14 Aug 2024, 2:08 a.m.
Last Modified: 14 Aug 2024, 2:08 a.m.
Panel version: 1.159

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cerebellofaciodental syndrome, MIM# 616202
  • Cerebellar-facial-dental syndrome MONDO:0014529
OMIM
604902
Clinvar variants
Variants in BRF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: brf1 has been classified as Green List (High Evidence).

22 Aug 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BRF1 were changed from Cerebellofaciodental syndrome, 616202 (3) to Cerebellofaciodental syndrome, MIM# 616202; Cerebellar-facial-dental syndrome MONDO:0014529

22 Aug 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BRF1 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BRF1 was added gene: BRF1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: BRF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BRF1 were set to Cerebellofaciodental syndrome, 616202 (3)