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  2. Congenital Disorders of Glycosylation
  3. EDEM3
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Congenital Disorders of Glycosylation

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 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Phenotypes
Congenital disorder of glycosylation, type 2V, MIM# 619493

Created: 24 Aug 2021, 11:22 a.m.
Last Modified: 24 Aug 2021, 11:22 a.m.
Panel version: 1.16

Michelle Torres (Victorian Clinical Genetics Services)

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 show LoF of EDEM3 enzymatic activity.
Sources: Literature
Sources: Literature
Created: 2 Aug 2021, 5:28 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
EDEM3-congenital disorder of glycosylation

Publications

Created: 2 Aug 2021, 5:28 a.m.

Panel version: 1.14

Details

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

History Filter Activity

24 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EDEM3 were changed from Congenital disorder of glycosylation; Developmental delay to Congenital disorder of glycosylation, type 2V, MIM# 619493

2 Aug 2021, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: EDEM3 were changed from EDEM3-congenital disorder of glycosylation to Congenital disorder of glycosylation; Developmental delay

2 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: edem3 has been classified as Green List (High Evidence).

2 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: edem3 has been classified as Green List (High Evidence).

2 Aug 2021, Gel status: 0

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

Michelle Torres (Victorian Clinical Genetics Services)

gene: EDEM3 was added gene: EDEM3 was added to Congenital Disorders of Glycosylation. Sources: Literature 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 EDEM3-congenital disorder of glycosylation Review for gene: EDEM3 was set to GREEN