Genes in panel
Regions in panel
Prev Next

Intellectual disability

Gene: EMG1

Amber List (moderate evidence)

EMG1 (EMG1, N1-specific pseudouridine methyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000126749
EnsemblGeneIds (GRCh37): ENSG00000126749
OMIM: 611531, Gene2Phenotype
EMG1 is in 3 panels

1 review

Catherine Snow (Genomics England)

Comment on list classification: Gene identified in literature PMID:30914295 as missing in PanelApp compared to other curated gene list for ID genes.

Bowen–Conradi syndrome consists of prenatal and extreme postnatal growth retardation, severe psychomotor retardation, microcephaly, micrognathia, a prominent nose associated with lack of nasofrontal angle, flexion contractures of the fingers but also of some of the large joints, and rockerbottom feet (PMID:19463982).
So far, one EMG1 variant (D86G) recorded for Bowen-Conradi Syndrome, with virtually all affected babies born into Hutterite families. PMID:19463982 does report that there are at least 4 published (Russian, German, Turkish and two Indian babies from PMIDs 7123536;11462705;7888139;11310999) and four unpublished reports of non-Hutterite babies with BCS-compatible features but these reports predate variant analysis.
Therefore EMG1 will be classified as Amber as current gene:disease evidence for Bowen-Conradi syndrome is limited to Hutterite families.

Has been reviewed in Fetal anomalies panel and is amber.
Created: 20 May 2019, 3:18 p.m.


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Amber
  • Literature
  • Literature
  • Bowen-Conradi syndrome, 211180
Clinvar variants
Variants in EMG1
Panels with this gene

History Filter Activity

25 Jul 2019, Gel status: 2

Added Tag

Catherine Snow (Genomics England)

Tag watchlist tag was added to gene: EMG1.

25 Jul 2019, Gel status: 2

Set mode of inheritance

Catherine Snow (Genomics England)

Mode of inheritance for gene EMG1 was changed from to BIALLELIC, autosomal or pseudoautosomal

25 Jul 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Catherine Snow (Genomics England)

gene: EMG1 was added gene: EMG1 was added to Intellectual disability. Sources: Literature,Expert Review Amber Mode of inheritance for gene: EMG1 was set to Publications for gene: EMG1 were set to 30914295 Phenotypes for gene: EMG1 were set to Bowen-Conradi syndrome, 211180