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Intellectual disability

Gene: EMC10

Amber List (moderate evidence)

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

3 reviews

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 Amber
Phenotypes
  • Neurodevelopmental disorder with dysmorphic facies and variable seizures, OMIM:619264
Tags
Q2_21_rating
OMIM
614545
Clinvar variants
Variants in EMC10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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