EMG1

EMG1, N1-specific pseudouridine methyltransferase
OMIM: 611531, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green EMG1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE Additional Gene List
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Bowen-Conradi syndrome, OMIM:211180
Green EMG1 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Bowen-Conradi syndrome
    Amber EMG1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    • Literature
    Phenotypes
    • Bowen-Conradi syndrome, 211180
    Tags
    • watchlist