Congenital Disorders of Glycosylation
Gene: EDEM3
Phenotypes
Congenital disorder of glycosylation, type 2V, MIM# 619493
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: LiteratureCreated: 2 Aug 2021, 5:28 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
EDEM3-congenital disorder of glycosylation
Publications
Phenotypes for gene: EDEM3 were changed from Congenital disorder of glycosylation; Developmental delay to Congenital disorder of glycosylation, type 2V, MIM# 619493
Phenotypes for gene: EDEM3 were changed from EDEM3-congenital disorder of glycosylation to Congenital disorder of glycosylation; Developmental delay
Gene: edem3 has been classified as Green List (High Evidence).
Gene: edem3 has been classified as Green List (High Evidence).
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