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  3. EMC10
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Fetal anomalies

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 4 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 10 Mar 2026, 12:27 p.m. | Last Modified: 10 Mar 2026, 12:27 p.m.
Panel Version: 6.149
This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.150

Elizabeth Scotchman (North Thames Genomic Laboratory Hub)

Green List (high evidence)

Green on UK panels: DDG2P, Early onset or syndromic epilepsy and Intellectual disability. PMID 40150819 summarises patients in the literature - various anomalies on brain MRI such as cerebral atrophy (2/29), cerebellar atrophy (3/29), and corpus callosum atrophy (8/29), Chiari Imalformation (7/29), white matter signal abnormalities, and grey matter heterotopia.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

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
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Neurodevelopmental disorder with dysmorphic facies and variable seizures, OMIM:619264 for gene: EMC10

9 Mar 2026, Gel status: 3

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: EMC10 was added gene: EMC10 was added to Fetal anomalies. Sources: Expert Review Green Mode of inheritance for gene: EMC10 was set to BIALLELIC, autosomal or pseudoautosomal