Neonatal cholestasis
Gene: MPIEnsemblGeneIds (GRCh38): ENSG00000178802
EnsemblGeneIds (GRCh37): ENSG00000178802
OMIM: 154550, Gene2Phenotype
MPI is in 12 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, OMIM:602579
- MPI-CDG, MONDO:0011257
- OMIM
- 154550
- Clinvar variants
- Variants in MPI
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intellectual disability
- Neonatal cholestasis
- Fetal anomalies
- COVID-19 research
- Undiagnosed metabolic disorders
- Primary lymphoedema
- Congenital disorders of glycosylation
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Cholestasis
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: MPI were changed from Congenital disorder of glycosylation, type Ib 602579 to Congenital disorder of glycosylation, type Ib, OMIM:602579; MPI-CDG, MONDO:0011257
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)This panel has been subjected to extensive internal and external review.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: mpi has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: mpi has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: MPI were set to 28108845; 10980531; 9585601; 12414827
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: MPI were set to Congenital disorder of glycosylation, type Ib 602579
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: MPI was changed from to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)MPI was added to Cholestasis panel. Sources: Victorian Clinical Genetics Services
Created
Ellen McDonagh (Genomics England Curator)MPI was created by Ellen McDonagh