1. Genes and Genomic Entities
  2. MPI

MPI

mannose phosphate isomerase
OMIM: 154550, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels
Green MPI in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.26

review 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
Red MPI in COVID-19 research


Level 2: Viral research
Version 1.142

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Red
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Ib, OMIM:602579
  • MPI-CDG, MONDO:0011257
Green MPI in Cholestasis


Version 3.4
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Congenital disorder of glycosylation, type Ib, OMIM:602579
  • MPI-CDG, MONDO:0011257
Green MPI in Congenital disorders of glycosylation

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 4.18
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Literature
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    Phenotypes
    • Congenital disorder of glycosylation, type Ib, OMIM:602579
    • MPI-CDG, MONDO:0011257
    • Phosphomannose isomerase deficiency (Disorders of protein N-glycosylation)
    Red MPI in Primary immunodeficiency or monogenic inflammatory bowel disease


    Version 4.202
    Latest signed off version: v4.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Congenital disorder of glycosylation, type Ib, OMIM:602579
    • MPI-CDG, MONDO:0011257
    Green MPI in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.617

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Congenital disorder of glycosylation, type Ib, OMIM:602579
    • MPI-CDG, MONDO:0011257
    • Phosphomannose isomerase deficiency (Disorders of protein N-glycosylation)
    Green MPI in Likely inborn error of metabolism - targeted testing not possible


    Version 4.137
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Congenital disorder of glycosylation, type Ib, OMIM:602579
    • MPI-CDG, MONDO:0011257
    • Phosphomannose isomerase deficiency (Disorders of protein N-glycosylation)
    Red MPI in Fetal anomalies


    Version 3.164
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Congenital disorder of glycosylation, type Ib, OMIM:602579
    • MPI-CDG, MONDO:0011257
    Green MPI in DDG2P


    Version 3.88
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CONGENITAL DISORDERS OF GLYCOSYLATION 612379
    Red MPI in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Congenital disorder of glycosylation, type Ib, OMIM:602579
    • MPI-CDG, MONDO:0011257
    Red MPI in Primary lymphoedema

    Level 3: Lymphatic Disorders
    Level 2: Cardiovascular disorders
    Version 3.11
    Latest signed off version: v3.0 (30 Nov 2022)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    Phenotypes
    • Congenital disorder of glycosylation, type Ib, OMIM:602579
    • MPI-CDG, MONDO:0011257
    Red MPI in Childhood onset dystonia, chorea or related movement disorder


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • London North GLH
    Phenotypes
    • Congenital disorder of glycosylation, type Ib, OMIM:602579
    • MPI-CDG, MONDO:0011257
    Green MPI in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Congenital disorder of glycosylation, type Ib, OMIM:602579
    • MPI-CDG, MONDO:0011257