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Fetal anomalies

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

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Cerebellofaciodental syndrome is an autosomal recessive neurodevelopmental disorder characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia.

At least 5 unrelated families and a zebrafish model.
Sources: Literature
Created: 3 Mar 2022, 5:02 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebellofaciodental syndrome - MIM#616202

Publications

Details

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

History Filter Activity

3 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Mar 2022, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: BRF1 was added gene: BRF1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: BRF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BRF1 were set to 25561519; 25561519; 27748960 Phenotypes for gene: BRF1 were set to Cerebellofaciodental syndrome - MIM#616202 Review for gene: BRF1 was set to GREEN