Genomics England
GMS Panels
Panels
Genes and Entities

UBTF

upstream binding transcription factor, RNA polymerase I
OMIM: 600673
PanelMode of inheritanceDetails
2 panels
Green
in Childhood onset dystonia or chorea or related movement disorder
R-numbers: R57
Signed-off version 2.6
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodegeneration, childhood-onset, with brain atrophy, OMIM:617672
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurodegeneration, childhood-onset, with brain atrophy, OMIM:617672