Congenital disorders of glycosylation
Gene: MPIComment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 5 variants reported in 4 cases.Created: 19 Dec 2016, 10:38 a.m.
Treated with mannose-therapyCreated: 12 Dec 2016, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Phenotypes for gene: MPI were changed from Congenital disorder of glycosylation, type Ib 602579; Phosphomannose isomerase deficiency (Disorders of protein N-glycosylation) to Congenital disorder of glycosylation, type Ib, OMIM:602579; MPI-CDG, MONDO:0011257; Phosphomannose isomerase deficiency (Disorders of protein N-glycosylation)
Publications for gene: MPI were set to 10980531
Promoted to V1 19th December 2016
This gene has been classified as Green List (High Evidence).
Publications for MPI were set to 10980531
MPI was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
MPI was added to Congenital disorders of glycosylationpanel. Source: Literature Model of inheritance for gene MPI was set to BIALLELIC, autosomal or pseudoautosomal
MPI was added to Congenital disorders of glycosylationpanel. Source: Illumina TruGenome Clinical Sequencing Services
MPI was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory
MPI was created by sleigh