Cerebellar hypoplasia

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

1 review

Alice Gardham (Genomics England)

I don't know

Mutations identified in affected relatives in three different families. Supported by animal model evidence
Created: 14 Nov 2016, 12:26 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebellofaciodental syndrome 616202

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Cerebellofaciodental syndrome 616202
OMIM
604902
Clinvar variants
Variants in BRF1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Feb 2017, Gel status: 0

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

22/02/2017: Panel revised after internal clinical review and further curation.

14 Nov 2016, Gel status: 0

Added New Source

Alice Gardham (Genomics England)

BRF1 was added to Cerebellar hypoplasiapanel. Sources: Literature

14 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

BRF1 was created by agardham