Transplant Co-Morbidity Superpanel
Gene: MPI
MPI (mannose phosphate isomerase)
EnsemblGeneIds (GRCh38): ENSG00000178802
EnsemblGeneIds (GRCh37): ENSG00000178802
OMIM: 154550, Gene2Phenotype
MPI is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000178802
EnsemblGeneIds (GRCh37): ENSG00000178802
OMIM: 154550, Gene2Phenotype
MPI is in 16 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- MPI-CDG MONDO:0011257
- 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
1 Aug 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: MPI was added gene: MPI was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review,Expert Review Green Mode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPI were set to 32266963; 10980531; 12414827; 33098580; 32905087; 30242110; 33204592; 9585601 Phenotypes for gene: MPI were set to MPI-CDG MONDO:0011257; Congenital disorder of glycosylation, type Ib, MIM# 602579