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Genetic Epilepsy

Gene: EMC1

Green List (high evidence)

EMC1 (ER membrane protein complex subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000127463
EnsemblGeneIds (GRCh37): ENSG00000127463
OMIM: 616846, Gene2Phenotype
EMC1 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Chung et al 2022 (PMID: 35234901) report 3 unrelated children with severe to profound developmental delay, truncal hypotonia, seizures and cortical visual impairment. A c.1745C > A; p.Pro582His (de novo) variant in EMC1 was found in 2 of the individuals. The other child had EMC1 c.1745C > G; p.Pro582Arg (mosaic; not inherited from mother, father deceased). Variants were identified by WES and confirmed by Sanger sequencing. In a Drosophila model the identified variants didn't rescue the lethality of a null allele. They also found variations in dosage of the wild-type EMC1, specifically in glia, lead to pupal lethality.

Note variants in this gene are associated with an AR condition as well, but seizures not part of the phenotype.
Sources: Expert Review
Created: 4 Dec 2023, 7:18 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder, MONDO:0700092, EMC1-related

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, EMC1-related
OMIM
616846
Clinvar variants
Variants in EMC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Dec 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: emc1 has been classified as Green List (High Evidence).

4 Dec 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: emc1 has been classified as Green List (High Evidence).

4 Dec 2023, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EMC1 was added gene: EMC1 was added to Genetic Epilepsy. Sources: Expert Review Mode of inheritance for gene: EMC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EMC1 were set to 35234901; 26942288 Phenotypes for gene: EMC1 were set to Neurodevelopmental disorder, MONDO:0700092, EMC1-related Review for gene: EMC1 was set to GREEN