RMI2

RecQ mediated genome instability 2
OMIM: 612426, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber RMI2 in Chromosome Breakage Disorders


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.19

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Bloom-like syndrome

Amber RMI2 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Bloom-like syndrome