1. Genes and Genomic Entities
  2. RMI1

RMI1

RecQ mediated genome instability 1
OMIM: 610404, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber RMI1 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 5.7
Latest signed off version: v5.0 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
  • Literature
Phenotypes
  • Bloom Syndrome-like Disorder
Tags
  • watchlist
Red RMI1 in DDG2P


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • Bloom Syndrome like Disorder