Research panel - Severe Paediatric Disorders
Gene: EMC1

EMC1 (ER membrane protein complex subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000127463
EnsemblGeneIds (GRCh37): ENSG00000127463
OMIM: 616846, Gene2Phenotype
EMC1 is in 4 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on mode of inheritance: As there are three additional unrelated cases of monoallelic variants in patients with an intellectual disability phenotype reported now, the mode of inheritance should be updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal'
Created: 1 Mar 2023, 2:41 p.m. | Last Modified: 1 Mar 2023, 2:41 p.m.

Panel Version: 1.143

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.
Created: 1 Mar 2023, 2:40 p.m. | Last Modified: 1 Mar 2023, 2:40 p.m.

Panel Version: 1.142

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Publications

35234901

Created: 1 Mar 2023, 2:40 p.m.
Last Modified: 1 Mar 2023, 2:40 p.m.
Panel version: 1.142

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: EMC1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Cerebellar atrophy, visual impairment, and psychomotor retardation, 616875 (3); Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:18 p.m. | Last Modified: 20 Feb 2020, 5:18 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:18 p.m.
Last Modified: 20 Feb 2020, 5:18 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Cerebellar atrophy, visual impairment, and psychomotor retardation, 616875

OMIM

616846

Clinvar variants

Variants in EMC1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

1 Mar 2023, Gel status: 3

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene: EMC1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

1 Mar 2023, Gel status: 3

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene: EMC1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

1 Mar 2023, Gel status: 3

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene: EMC1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

1 Mar 2023, Gel status: 3

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: EMC1 were set to 30847515

21 Feb 2020, Gel status: 3