Genes in panel
Regions in panel
Prev Next

Intellectual disability

Gene: EMC10

Green List (high evidence)

EMC10 (ER membrane protein complex subunit 10)
EnsemblGeneIds (GRCh38): ENSG00000161671
EnsemblGeneIds (GRCh37): ENSG00000161671
OMIM: 614545, Gene2Phenotype
EMC10 is in 2 panels

4 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 14 Mar 2022, 2:22 p.m. | Last Modified: 14 Mar 2022, 2:22 p.m.
Panel Version: 3.1519

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is now enough evidence to warrant a Green rating at the next GMS panel update.
Created: 11 Jun 2021, 10:52 a.m. | Last Modified: 11 Jun 2021, 10:52 a.m.
Panel Version: 3.1124
There are now at least 15 individuals from 8 families reported with biallelic variants in the EMC10 gene associated with disease. One variant found in a single population is likely to be a founder variant; however, the identification of a different variant in a family presenting with a similar phenotype corroborates causality. Both variants were shown to significantly reduce EMC10 RNA expression. All affected individuals show a core phenotype of GDD/ID with variable severity. Seizures were noted in 7/15 individuals, typically during childhood or in the neonatal period, and included multifocal as well as generalized tonic–clonic seizures.
Created: 11 Jun 2021, 10:50 a.m. | Last Modified: 11 Jun 2021, 10:50 a.m.
Panel Version: 3.1123
Comment on phenotypes: EMC10 is now associated with a relevant phenotype in OMIM - 'Neurodevelopmental disorder with dysmorphic facies and variable seizures, OMIM:619264' and is listed in G2P with a 'probable' disease confidence rating for 'EMC10-related neurodevelopmental disorder'
Created: 11 Jun 2021, 10:21 a.m. | Last Modified: 11 Jun 2021, 10:21 a.m.
Panel Version: 3.1122

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with dysmorphic facies and variable seizures, OMIM:619264

Publications

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with any phenotypes in OMIM or Gene2Phenotype. As there is only 1 case, this gene has been given a Red rating.
Created: 16 Dec 2020, 4:38 p.m. | Last Modified: 16 Dec 2020, 4:38 p.m.
Panel Version: 3.652

Zornitza Stark (Australian Genomics)

Green List (high evidence)

PMID 33531666: Additional 12 individuals from 7 Middle Eastern families reported. Same variant in all, suggestive of founder effect (but different to the previously reported family).
Created: 10 May 2021, 8:18 a.m. | Last Modified: 10 May 2021, 8:18 a.m.
Panel Version: 3.1069
Homozygous variants of EMC1 are associated with GDD, scoliosis, and cerebellar atrophy, indicating the relevance of this pathway for neurogenetic disorders.

One Saudi family with 2 affected individuals with mild ID, speech delay, and GDD.
WES and Sanger sequencing revealed a homozygous splice acceptor site variant (c.679‐1G>A) in EMC10 . Variant segregated within the family. RT‐qPCR showed a substantial decrease in the relative EMC10 gene expression in the patients.
Sources: Literature
Created: 9 Dec 2020, 8:35 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with dysmorphic facies and variable seizures, MIM# 619264

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with dysmorphic facies and variable seizures, OMIM:619264
OMIM
614545
Clinvar variants
Variants in EMC10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Mar 2022, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating was removed from gene: EMC10.

14 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to EMC10. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

11 Jun 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: emc10 has been classified as Amber List (Moderate Evidence).

11 Jun 2021, Gel status: 1

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: EMC10.

11 Jun 2021, Gel status: 1

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: EMC10 were set to 32869858

11 Jun 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: EMC10 were changed from Neurodevelopmental disorder with dysmorphic facies and variable seizures, OMIM:619264 to Neurodevelopmental disorder with dysmorphic facies and variable seizures, OMIM:619264

11 Jun 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: EMC10 were changed from Intellectual disability to Neurodevelopmental disorder with dysmorphic facies and variable seizures, OMIM:619264

16 Dec 2020, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: emc10 has been classified as Red List (Low Evidence).

9 Dec 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: EMC10 was added gene: EMC10 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: EMC10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EMC10 were set to 32869858 Phenotypes for gene: EMC10 were set to Intellectual disability Review for gene: EMC10 was set to RED