Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: BRF1

Red List (low evidence)

BRF1 (BRF1, RNA polymerase III transcription initiation factor subunit)
EnsemblGeneIds (GRCh38): ENSG00000185024
EnsemblGeneIds (GRCh37): ENSG00000185024
OMIM: 604902, Gene2Phenotype
BRF1 is in 5 panels

0 reviews

Details

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

History Filter Activity

9 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Comment on list classification

19 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: BRF1 was added gene: BRF1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: BRF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BRF1 were set to 25561519 Phenotypes for gene: BRF1 were set to Cerebellofaciodental syndrome 616202