Neonatal cholestasis

Gene: MPI

Green List (high evidence)

MPI (mannose phosphate isomerase)
EnsemblGeneIds (GRCh38): ENSG00000178802
EnsemblGeneIds (GRCh37): ENSG00000178802
OMIM: 154550, Gene2Phenotype
MPI is in 10 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 5 variants reported in 3 unrelated cases. The phenotype is charaterized by hepatomegaly, hepatic fibrosis, cirrhosis and hepatic failure in young children.
Created: 15 Aug 2018, 1:58 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Ib 602579
OMIM
154550
Clinvar variants
Variants in MPI
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Sep 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been subjected to extensive internal and external review.

15 Aug 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

15 Aug 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

15 Aug 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

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

15 Aug 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: MPI were set to Congenital disorder of glycosylation, type Ib 602579

15 Aug 2018, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: MPI was changed from to BIALLELIC, autosomal or pseudoautosomal

21 Jun 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MPI was added to Cholestasis panel. Sources: Victorian Clinical Genetics Services

21 Jun 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

MPI was created by Ellen McDonagh