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  3. BRF1
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Intellectual disability

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

2 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on list classification: New gene added by external expert and reviewed by curation team, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green
Created: 17 Sep 2018, 11:01 a.m.
New gene added by external expert review, who notes that there are 3 unrelated individuals reported in the literature, ID is part of the phenotype.
Created: 17 Sep 2018, 11 a.m.
Comment on phenotypes: added MIMid form OMIM
Created: 17 Sep 2018, 11 a.m.
Created: 17 Sep 2018, 11 a.m.

Panel version: 2.430

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Three families published in literature (25561519), ID is part of the phenotype, functional evidence.
Created: 22 Jun 2018, 10:07 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebellofaciodental syndrome

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 22 Jun 2018, 10:07 a.m.

Panel version: 2.109

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Cerebellofaciodental syndrome, 616202
  • intellectual disability
OMIM
604902
Clinvar variants
Variants in BRF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to BRF1.

17 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

17 Sep 2018, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: BRF1 were changed from Cerebellofaciodental syndrome to Cerebellofaciodental syndrome, 616202; intellectual disability

22 Jun 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

BRF1 was added to Intellectual disability panel. Sources: Literature

22 Jun 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

BRF1 was created by Zornitza Stark