MCM5

minichromosome maintenance complex component 5
OMIM: 602696, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red MCM5 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.70

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • ?Meier-Gorlin syndrome 8 617564
Red MCM5 in Differences in sex development


Level 2: Endocrinology
Version 4.14
Latest signed off version: v4.5 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • ?Meier-Gorlin syndrome 8 617564
Red MCM5 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.34
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    Phenotypes
    • ?Meier-Gorlin syndrome 8 617564
    Red MCM5 in Monogenic short stature


    Level 2: Endocrinology
    Version 1.31
    Latest signed off version: v1.0 (7 Aug 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • ?Meier-Gorlin syndrome 8