Congenital disorders of glycosylation
Gene: MPI

MPI (mannose phosphate isomerase)
EnsemblGeneIds (GRCh38): ENSG00000178802
EnsemblGeneIds (GRCh37): ENSG00000178802
OMIM: 154550, Gene2Phenotype
MPI is in 12 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment 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.

Created: 19 Dec 2016, 10:38 a.m.

Panel version: 0.86

Daniel Ungar (University of York, Department of Biology)

Green List (high evidence)

Treated with mannose-therapy
Created: 12 Dec 2016, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

10980531

Created: 12 Dec 2016, 3:30 p.m.

Panel version: 0.8

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen
Literature
Illumina TruGenome Clinical Sequencing Services
Emory Genetics Laboratory

Phenotypes

Congenital disorder of glycosylation, type Ib, OMIM:602579
MPI-CDG, MONDO:0011257
Phosphomannose isomerase deficiency (Disorders of protein N-glycosylation)

OMIM

154550

Clinvar variants

Variants in MPI

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

24 Dec 2020, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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)

24 Dec 2020, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: MPI were set to 10980531

19 Dec 2016, Gel status: 4