Intellectual disability
Gene: EMC10

EMC10 (ER membrane protein complex subunit 10)
EnsemblGeneIds (GRCh38): ENSG00000161671
EnsemblGeneIds (GRCh37): ENSG00000161671
OMIM: 614545, Gene2Phenotype
EMC10 is in 3 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

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

Created: 11 Jun 2021, 10:21 a.m.
Last Modified: 11 Jun 2021, 10:21 a.m.
Panel version: 3.1123

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

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

Created: 9 Dec 2020, 8:35 a.m.

Panel version: 3.1069

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