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Prepair 1000+

Gene: MPI

Green List (high evidence)
MPI (mannose phosphate isomerase)
EnsemblGeneIds (GRCh38): ENSG00000178802
EnsemblGeneIds (GRCh37): ENSG00000178802
OMIM: 154550, Gene2Phenotype
MPI is in 16 panels

1 review

Lauren Thomas (VIctorian Clinical Genetics Services)

Green List (high evidence)

CDG Ib is clinically distinct from most other CDGs by the lack of significant central nervous system involvement. The predominant symptoms are chronic diarrhea with failure to thrive and protein-losing enteropathy with coagulopathy. Some patients develop hepatic fibrosis. CDG Ib is also different from other CDGs in that it can be treated effectively with oral mannose supplementation, but can be fatal if untreated.

HGNC approved symbol/name: MPI
Is the phenotype(s) severe and onset <18yo? Yes
Treatments available: Yes - Mannose. One of the few treatable subtypes of CDGs with proven effect of oral mannose, recommended by consensus guidelines (PMID: 32266963)
Known technical challenges? No
Gene reported in 3 independent families: Yes
Created: 29 Jan 2025, 3:31 a.m. | Last Modified: 29 Jan 2025, 3:31 a.m.
Panel Version: 1.1357

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Ib, MIM# 602579

Publications

Created: 29 Jan 2025, 3:31 a.m.
Last Modified: 29 Jan 2025, 3:31 a.m.
Panel version: 1.1357

History Filter Activity

29 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mpi has been classified as Green List (High Evidence).

29 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MPI were changed from Congenital disorder of glycosylation, type Ib, 602579 (3) to Congenital disorder of glycosylation, type Ib, MIM# 602579

29 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MPI were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Congenital disorder of glycosylation, type Ib, 602579 (3) for gene: MPI

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MPI was added gene: MPI was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPI were set to Congenital disorder of glycosylation, type Ib, 602579 (3)