SREBF2:Ensemblv115

sterol regulatory element binding transcription factor 2
OMIM: 600481, ClinGen, DECIPHER

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Amber SREBF2 in Ichthyosis and Porokeratosis


Level 2: Dermatological disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Neurocutaneous syndrome, MONDO:0042983, SREBF2-related