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Xp21.2 region (includes NR0B1) Gain
ISCA-46302-Gain 2

Fetal anomalies
Gene: EMG1

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

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 25 Feb 2025, 11:15 a.m. | Last Modified: 25 Feb 2025, 11:15 a.m.

Panel Version: 5.78

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.

Panel Version: 5.16

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.78

Esther Kinning (NHS Greater Glasgow and Clyde)

Green List (high evidence)

One report 2009 in 9 Hutterite families, causes severe IUGR and microcephaly but not reported outside Hutterites to date.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.

Panel Version: 5.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bowen-Conradi syndrome, MIM#211180

Publications

19463982

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Rebecca Foulger (Genomics England curator)

I don't know

Comment on list classification: Kept rating as Amber awaiting further published/clinical evidence. Phenotype is fetally-relevant (see review from Deirdre Cilliers) but current gene:disease evidence for Bowen-Conradi syndrome is limited to Hutterite families (PMID:19463982).
Created: 24 Apr 2019, 8:55 p.m.

Bowen-Conradi syndrome includes marked prenatal and postnatal growth retardation, microcephaly, a prominent nose with an absent glabellar angle, micrognathia, joint abnormalities including flexion contractures, camptodactyly, rocker-bottom feet, and severe psychomotor delay (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.
Created: 11 Feb 2019, 2:28 p.m.

Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019): Yes [EMG1 should be on the Fetal anomalies panel]. There are structural findings that will be identified on ultrasound scan, namely IUGR, microcephaly, cleft lip and hypospadias (even rocker bottom feet can sometimes be identified on ultrasound scan, although testing would not be offered for this in isolation). These findings are less frequent in the condition, but will be ascertained prenatally. Poor outcome also and this would be useful information for parents to consider in pregnancy – although it is a rare condition.
Created: 11 Feb 2019, 2:16 p.m.

'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Created: 8 Nov 2018, 8:57 p.m.

In the original PAGE file: rated as Probable for biallelic Bowen-Conradi syndrome, and rated as Confirmed in the Additional gene list (also for biallelic Bowen-Conradi syndrome). In the original PAGE file, MOP listed as Uncertain for Bowen-Conradi syndrome, and listed as All missense/in in the Additional gene list.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.85

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS
PAGE Additional Gene List
PAGE DD-Gene2Phenotype

Phenotypes

Bowen-Conradi syndrome, OMIM:211180

OMIM

611531

Clinvar variants

Variants in EMG1

Penetrance

None

Publications

19463982

Mode of Pathogenicity

Other

Panels with this gene

History Filter Activity

25 Feb 2025, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_25_ NHS_review was removed from gene: EMG1. Tag Q1_23_promote_green was removed from gene: EMG1.

25 Feb 2025, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to EMG1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

21 Feb 2025, Gel status: 2

Removed Tag, Added Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag watchlist was removed from gene: EMG1. Tag Q1_25_ NHS_review tag was added to gene: EMG1. Tag Q1_23_promote_green tag was added to gene: EMG1.

20 Feb 2025, Gel status: 2

Added New Source

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to EMG1.

6 Feb 2025, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: EMG1 were changed from Bowen-Conradi syndrome; Bowen-Conradi syndrome, 211180 to Bowen-Conradi syndrome, OMIM:211180

24 Apr 2019, Gel status: 2