Cholestasis
Gene: MPIEnsemblGeneIds (GRCh38): ENSG00000178802
EnsemblGeneIds (GRCh37): ENSG00000178802
OMIM: 154550, Gene2Phenotype
MPI is in 12 panels
2 reviews
Ivone Leong (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 4:18 p.m. | Last Modified: 3 Mar 2022, 4:18 p.m.
Panel Version: 1.105
Comment on publications: Comment on publications: New publications added.Created: 23 Nov 2021, 11:41 a.m. | Last Modified: 23 Nov 2021, 11:41 a.m.
Panel Version: 1.98
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
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- 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
-
- Neonatal cholestasis
- Fetal anomalies
- COVID-19 research
- Undiagnosed metabolic disorders
- Primary lymphoedema
- Intellectual disability
- 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
Removed Tag, Removed Tag
Ivone Leong (Genomics England Curator)Tag for-review was removed from gene: MPI. Tag Q4_21_NHS_review was removed from gene: MPI.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to MPI. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: MPI were set to 12414827; 9585601; 10980531; 33098580; 33204592; 32905087; 32266963; 30242110
Added Tag
Ivone Leong (Genomics England Curator)Tag Q4_21_NHS_review tag was added to gene: MPI.
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: MPI were set to 12414827; 10980531; 9585601; 28108845
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
Added Tag
Ivone Leong (Genomics England Curator)Tag for-review tag was added to gene: MPI.
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