Congenital disorders of glycosylation
Gene: EDEM3
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: 1 Feb 2023, 9:14 a.m. | Last Modified: 1 Feb 2023, 9:14 a.m.
Panel Version: 3.4
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
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: LiteratureCreated: 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
Tag Q3_22_rating was removed from gene: EDEM3.
Source Expert Review Green was added to EDEM3. Source NHS GMS was added to EDEM3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q3_22_rating tag was added to gene: EDEM3.
Gene: edem3 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: EDEM3 were changed from Congenital disorder of glycosylation to Congenital disorder of glycosylation, type 2V, OMIM:619493
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 Congenital disorder of glycosylation Review for gene: EDEM3 was set to GREEN gene: EDEM3 was marked as current diagnostic