Liver Failure_Paediatric
Gene: MPIEnsemblGeneIds (GRCh38): ENSG00000178802
EnsemblGeneIds (GRCh37): ENSG00000178802
OMIM: 154550, Gene2Phenotype
MPI is in 16 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Hepatic involvement is prominent and liver failure reported.
Sources: Expert listCreated: 1 Nov 2020, 6:54 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Ib, MIM# 602579
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Congenital disorder of glycosylation, type Ib, MIM# 602579
- OMIM
- 154550
- Clinvar variants
- Variants in MPI
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Hyperinsulinism
- Prepair 1000+
- Cholestasis
- Liver Failure_Paediatric
- Lymphoedema_syndromic
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Bleeding and Platelet Disorders
- Transplant Co-Morbidity Superpanel
- Congenital Disorders of Glycosylation
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Prepair 500+
- Congenital Diarrhoea
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mpi has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mpi has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MPI was added gene: MPI was added to Acute Liver Failure_Paediatric. Sources: Expert list Mode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPI were set to 25902754 Phenotypes for gene: MPI were set to Congenital disorder of glycosylation, type Ib, MIM# 602579 Review for gene: MPI was set to GREEN