BRF1

BRF1, RNA polymerase III transcription initiation factor subunit
OMIM: 604902
PanelMode of inheritanceDetails
2 panels
R-numbers: R54
Signed-off version 2.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebrofaciodental syndrome
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellofaciodental syndrome, 616202, intellectual disability