SREBF1

sterol regulatory element binding transcription factor 1
OMIM: 184756, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green SREBF1 in Cataract


Level 2: Ophthalmological disorders
Version 0.366

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Mucoepithelial dysplasia, hereditary, MIM#158310

Green SREBF1 in Ichthyosis


Level 2: Dermatological disorders
Version 1.11

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome 2, MIM619016
  • Mucoepithelial dysplasia, hereditary, MIM#158310

Green SREBF1 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome 2, MIM619016
  • Mucoepithelial dysplasia, hereditary, MIM#158310

Green SREBF1 in Hair disorders


Level 2: Dermatological disorders
Version 0.71

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Literature
Phenotypes
  • IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome 2, MIM619016
  • Mucoepithelial dysplasia, hereditary, MIM#158310