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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 5 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.

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
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