Genomics England
GMS Panels
Panels
Genes and Entities

BRF1

BRF1, RNA polymerase III transcription initiation factor subunit
OMIM: 604902
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BRF1-related cerebellofaciodental syndrome, OMIM:616202
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellofaciodental syndrome, OMIM:616202
Green
in Hereditary ataxia with onset in adulthood
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebrofaciodental syndrome
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 10.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellofaciodental syndrome, 616202, intellectual disability