Congenital disorders of glycosylation
Gene: MOGSGlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=Q13724-1Created: 9 Jan 2020, 2:39 p.m. | Last Modified: 9 Jan 2020, 2:39 p.m.
Panel Version: 2.0
Comment on list classification: Promotion of this gene from amber to green on this panel is appropriate, based on the review in the Undiagnosed metabolic disorders panel including additional variants reportedCreated: 21 Mar 2017, 11:44 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and as a probable Developmental Disorder Gene / G2P. At least 4 variants reported as compound heterozygotes in two families.Created: 19 Dec 2016, 10:32 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Publications for MOGS were set to 4716661; 24716661; 20301507;26805780
Phenotypes for MOGS were set to Congenital disorder of glycosylation, type IIb 606056; MOGS-CDG (Disorders of protein N-glycosylation)
Publications for MOGS were set to 4716661;24716661;20301507
This gene has been classified as Green List (High Evidence).
Promoted to V1 19th December 2016
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
MOGS was added to Congenital disorders of glycosylationpanel. Source: UKGTN
MOGS was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
MOGS was added to Congenital disorders of glycosylationpanel. Source: Literature Model of inheritance for gene MOGS was set to BIALLELIC, autosomal or pseudoautosomal
MOGS was added to Congenital disorders of glycosylationpanel. Source: Illumina TruGenome Clinical Sequencing Services
MOGS was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory
MOGS was created by sleigh