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 1.24

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 1.130

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 1.110
Latest signed off version: v1.21 (20 Aug 2020)

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 2.92
Latest signed off version: v2.4 (4 Mar 2020)

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


    Version 2.572
    Latest signed off version: v2.1 (24 Feb 2020)

    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 1.542

    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 Inborn errors of metabolism


    Version 2.263
    Latest signed off version: v2.3 (17 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 1.880
    Latest signed off version: v1.92 (21 Aug 2020)

    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 2.76
    Latest signed off version: v2.2 (13 Feb 2020)

    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

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1651
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 2.25
    Latest signed off version: v2.2 (2 Mar 2020)

    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 or chorea or related movement disorder


    Version 1.240
    Latest signed off version: v1.137 (5 Aug 2021)

    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 1.127

    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