Congenital disorders of glycosylation
Gene: ALG3Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 5 variants reported, three as homozygotes and two as compound heterozygotes. Variant rs387906273 is synonymous, but shown to result in abnormal splicing and termination of translation and is therefore pathogenicCreated: 15 Dec 2016, 11:16 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Promoted to V1 19th December 2016
Phenotypes for ALG3 were set to Congenital disorder of glycosylation, type Id 601110; Mannosyltransferase 6 deficiency ALG3-CDG (Disorders of protein N-glycosylation)
This gene has been classified as Green List (High Evidence).
Publications for ALG3 were set to 15108280; 19862844
ALG3 was added to Congenital disorders of glycosylationpanel. Source: UKGTN
ALG3 was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
ALG3 was added to Congenital disorders of glycosylationpanel. Source: Literature Model of inheritance for gene ALG3 was set to BIALLELIC, autosomal or pseudoautosomal
ALG3 was added to Congenital disorders of glycosylationpanel. Source: Illumina TruGenome Clinical Sequencing Services
ALG3 was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory
ALG3 was created by sleigh