UHRF1

ubiquitin like with PHD and ring finger domains 1
OMIM: 607990, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber UHRF1 in Mendeliome


Version 1.3098

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Multi locus imprinting disturbance in offspring
  • chromosome instability

Amber UHRF1 in Imprinting disorders


Version 1.8

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Multi locus imprinting disturbance in offspring
  • Imprinting disorder