Genomics England
GMS Panels
Panels
Genes and Entities

SREBF2

sterol regulatory element binding transcription factor 2
OMIM: 600481
PanelMode of inheritanceDetails
1 panel
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
SREBF2-related complex dermatological, neurological, and skeletal abnormalities