SREBF1:Ensemblv115

sterol regulatory element binding transcription factor 1
OMIM: 184756, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green SREBF1 in Cataract


Level 2: Ophthalmological disorders
Version 1.0

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

Green SREBF1 in Ichthyosis and Porokeratosis


Level 2: Dermatological disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
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 1.0

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