Newborns main panel
Gene: MPI

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.

Panel Version: 0.137

PMID: 10980531 - 7 cases PMID: 32266963 - summary of 28 patients
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.134

From PMID: 32266963: p. Arg219Gln causing replacement of arginine by glutamine was also the first pathogenic variant identified in a MPI-CDG patient.3It was described in six compound heterozygotes and interestingly also in two asymptomatic homozygous adults.26
Created: 1 Jun 2023, 12:20 p.m. | Last Modified: 1 Jun 2023, 12:20 p.m.

Panel Version: 0.133

Created: 1 Jun 2023, 12:20 p.m.
Last Modified: 1 Jun 2023, 12:20 p.m.
Panel version: 0.137

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Mannose Phosphate Isomerase (MPI) - Congenital Disorders of Glycosylation

OMIM

154550

Clinvar variants

Variants in MPI

Penetrance

None

Panels with this gene

History Filter Activity

7 Feb 2024, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: MPI were changed from Congenital disorder of glycosylation, type Ib to Mannose Phosphate Isomerase (MPI) - Congenital Disorders of Glycosylation

14 Sep 2023, Gel status: 3