LTV1

LTV1 ribosome biogenesis factor
Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber LTV1 in Pigmentary skin disorders


Level 2: Dermatology
Version 4.13
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Inflammatory poikiloderma with hair abnormalities and acral keratoses, OMIM:620199
Amber LTV1 in Rare genetic inflammatory skin disorders


Level 2: Dermatology
Version 4.18
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Inflammatory poikiloderma with hair abnormalities and acral keratoses, OMIM:620199