1. Genes and Genomic Entities
  2. MDM1

MDM1

Mdm1 nuclear protein
OMIM: 613813, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber MDM1 in Retinal disorders


Level 2: Ophthalmology
Version 9.4
Latest signed off version: v9.0 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Retinal dystrophy, HP:0000556
Tags
  • new-gene-name
  • Q1_26_promote_green
  • Q1_26_NHS_review
Amber MDM1 in Ophthalmological ciliopathies


Level 2: Ophthalmology
Version 6.1
Latest signed off version: v6.0 (6 May 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Retinal dystrophy, HP:0000556
    Tags
    • new-gene-name
    • Q1_26_promote_green