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  2. Intellectual disability syndromic and non-syndromic
  3. EMC10
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Intellectual disability syndromic and non-syndromic

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 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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: 15 Apr 2021, 7:38 a.m. | Last Modified: 15 Apr 2021, 7:39 a.m.
Panel Version: 0.3681

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 15 Apr 2021, 7:38 a.m.
Last Modified: 15 Apr 2021, 7:39 a.m.
Panel version: 0.3681

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

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: 8 Dec 2020, 4:20 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Developmental delay and intellectual disability, no OMIM#

Publications

Created: 8 Dec 2020, 4:20 a.m.

Panel version: 0.3263

Details

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

History Filter Activity

15 Apr 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag founder tag was added to gene: EMC10.

15 Apr 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EMC10 were changed from Developmental delay and intellectual disability, no OMIM# to Neurodevelopmental disorder with dysmorphic facies and variable seizures, MIM# 619264

15 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: emc10 has been classified as Green List (High Evidence).

15 Apr 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: EMC10 were set to PMID: 32869858

15 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: emc10 has been classified as Green List (High Evidence).

8 Dec 2020, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: EMC10 was added gene: EMC10 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: EMC10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EMC10 were set to PMID: 32869858 Phenotypes for gene: EMC10 were set to Developmental delay and intellectual disability, no OMIM# Review for gene: EMC10 was set to RED