Genomics England
GMS Panels
Panels
Genes and Entities

SBF1

SET binding factor 1
OMIM: 603560
PanelMode of inheritanceDetails
2 panels
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 3.66
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease, type 4B3, 615284
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease, type 4B3 615284