Cerebellar and Pontocerebellar Hypoplasia
Gene: BRF1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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.
Created: 13 Feb 2021, 10:18 a.m. | Last Modified: 13 Feb 2021, 10:18 a.m.

Panel Version: 0.166

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebellofaciodental syndrome, MIM# 616202

Publications

Created: 13 Feb 2021, 10:18 a.m.
Last Modified: 13 Feb 2021, 10:18 a.m.
Panel version: 0.166

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Cerebellofaciodental syndrome, MIM# 616202

OMIM

604902

Clinvar variants

Variants in BRF1

Penetrance

None

Publications

Panels with this gene