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Intellectual disability

Gene: EDEM3

Green List (high evidence)
EDEM3 (ER degradation enhancing alpha-mannosidase like protein 3)
EnsemblGeneIds (GRCh38): ENSG00000116406
EnsemblGeneIds (GRCh37): ENSG00000116406
OMIM: 610214, Gene2Phenotype
EDEM3 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: 30 Jan 2023, 5:50 p.m. | Last Modified: 30 Jan 2023, 5:50 p.m.
Panel Version: 4.53
Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.

EDEM3 is associated with a relevant phenotype in OMIM (MIM# 619493) and G2P with a 'strong' confidence level assertion.

12 individuals from 7 unrelated families identified by Polla et al. 2021 (PMID: 34143952) with various biallelic variants in the EDEM3 gene. Clinical characteristics were predominant for DD (12/12), ID (6/7), hypotonia (6/12) and facial dysmorphisms.
Created: 18 Jul 2022, 1:26 p.m. | Last Modified: 18 Jul 2022, 1:29 p.m.
Panel Version: 2.87
Created: 18 Jul 2022, 1:26 p.m.
Last Modified: 18 Jul 2022, 1:29 p.m.
Copied from panel: Congenital disorders of glycosylation v2.87

Zornitza Stark (Australian Genomics)

Green List (high evidence)

PMID: 34143952: 7 families (11 individuals) with 6x PTV and 2x missense variants with neurodevelopmental delay and variable facial dysmorphisms. The unaffected parents were all heterozygous carriers. Functional studies show loss of EDEM3 enzymatic activity.
Sources: Literature
Created: 7 Aug 2021, 7:19 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 7 Aug 2021, 7:19 a.m.

Copied from panel: Congenital disorders of glycosylation v2.87

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, type 2V, OMIM:619493
OMIM
610214
Clinvar variants
Variants in EDEM3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_22_rating was removed from gene: EDEM3.

30 Jan 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to EDEM3. Source Expert Review Green was added to EDEM3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

18 Jul 2022, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: EDEM3 was added gene: EDEM3 was added to Intellectual disability. Sources: Literature,Expert Review Amber Q3_22_rating tags were added to gene: EDEM3. Mode of inheritance for gene: EDEM3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EDEM3 were set to 34143952 Phenotypes for gene: EDEM3 were set to Congenital disorder of glycosylation, type 2V, OMIM:619493