SREBF1

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green SREBF1 in Ichthyosis and erythrokeratoderma


Level 2: Dermatology
Version 4.12
Latest signed off version: v4.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Ichthyosis, follicular, with atrichia and photophobia syndrome 2, MIM# 619016, MONDO:0100221
  • Hereditary mucoepithelial dysplasia, MIM# 158310, MONDO:0008017
Green SREBF1 in Ectodermal dysplasia


Level 2: Dermatology
Version 4.27
Latest signed off version: v4.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Ichthyosis, follicular, with atrichia and photophobia syndrome 2, MIM# 619016, MONDO:0100221
  • Mucoepithelial dysplasia, hereditary, MIM# 158310, MONDO:0008017
Green SREBF1 in Bilateral congenital or childhood onset cataracts


Level 2: Ophthalmology
Version 7.10
Latest signed off version: v7.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mucoepithelial dysplasia, hereditary, OMIM:158310, MONDO:0008017