Genes in panel

Hereditary ataxia - adult onset

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 5 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Four families in lit - functional evidence for gene and variants. Also reports of links to Colorectal cancer in HGMDPro
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebrofaciodental syndrome

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Cerebrofaciodental syndrome
OMIM
604902
Clinvar variants
Variants in BRF1
Penetrance
None
Panels with this gene

History Filter Activity

27 Apr 2019, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: BRF1 was changed from to BIALLELIC, autosomal or pseudoautosomal

27 Apr 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

15 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Cerebrofaciodental syndrome for gene: BRF1

14 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to BRF1.

14 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: BRF1 was added gene: BRF1 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: BRF1 was set to