SREBF2

sterol regulatory element binding transcription factor 2
OMIM: 600481, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber SREBF2 in Ichthyosis


Level 2: Dermatological disorders
Version 1.11

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

Amber SREBF2 in Mendeliome


Version 1.1891

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

Amber SREBF2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

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