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Intellectual disability syndromic and non-syndromic

Gene: EMG1

Amber List (moderate evidence)

EMG1 (EMG1, N1-specific pseudouridine methyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000126749
EnsemblGeneIds (GRCh37): ENSG00000126749
OMIM: 611531, Gene2Phenotype
EMG1 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Founder mutation in Hutterite, D86G.
Sources: Expert list
Created: 2 Feb 2020, 4:14 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bowen-Conradi syndrome, MIM#211180

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Bowen-Conradi syndrome, MIM#211180
OMIM
611531
Clinvar variants
Variants in EMG1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Feb 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: emg1 has been classified as Amber List (Moderate Evidence).

2 Feb 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: emg1 has been classified as Amber List (Moderate Evidence).

2 Feb 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EMG1 was added gene: EMG1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list Mode of inheritance for gene: EMG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EMG1 were set to 19463982 Phenotypes for gene: EMG1 were set to Bowen-Conradi syndrome, MIM#211180 Review for gene: EMG1 was set to AMBER