Cholestasis

Gene: MPI

Amber List (moderate evidence)

MPI (mannose phosphate isomerase)
EnsemblGeneIds (GRCh38): ENSG00000178802
EnsemblGeneIds (GRCh37): ENSG00000178802
OMIM: 154550, Gene2Phenotype
MPI is in 13 panels

1 review

Ivone Leong (Genomics England Curator)

I don't know

This gene has been added to this panel as it is Green on the Neonatal cholestasis panel (v1.16). It has been given an Amber review and awaiting feedback from GMS about whether this gene should be promoted to Green status or not.
Created: 18 Nov 2020, 4:01 p.m. | Last Modified: 18 Nov 2020, 4:01 p.m.
Panel Version: 1.74

Details

History Filter Activity

24 Dec 2020, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: MPI were set to 12414827; 10980531; 9585601; 28108845

24 Dec 2020, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MPI were changed from Congenital disorder of glycosylation, type Ib, OMIM:602579 to Congenital disorder of glycosylation, type Ib, OMIM:602579; MPI-CDG, MONDO:0011257

18 Nov 2020, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: MPI.

18 Nov 2020, Gel status: 2

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

Ivone Leong (Genomics England Curator)

gene: MPI was added gene: MPI was added to Cholestasis. Sources: Expert Review Amber,Expert list Mode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPI were set to 12414827; 10980531; 9585601; 28108845 Phenotypes for gene: MPI were set to Congenital disorder of glycosylation, type Ib, OMIM:602579