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 4.67
Latest signed off version: v4.0 (22 Mar 2023)

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


Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

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