DPM2

dolichyl-phosphate mannosyltransferase subunit 2, regulatory
OMIM: 603564, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Green DPM2 in Congenital disorders of glycosylation


Level 2: Metabolic
Version 8.1
Latest signed off version: v8.0 (6 May 2026)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Other
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    Phenotypes
    • Congenital disorder of glycosylation, type Iu, OMIM:615042
    Green DPM2 in Congenital muscular dystrophy


    Level 2: Neurology
    Version 7.1
    Latest signed off version: v7.0 (6 May 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London South GLH
    • Expert Review Green
    • Emory Genetics Laboratory
    Phenotypes
    • Congenital disorder of glycosylation, type Iu, OMIM:615042
    Amber DPM2 in Arthrogryposis


    Level 2: Neurology
    Version 10.5
    Latest signed off version: v10.0 (6 May 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Emory Genetics Laboratory
    • Expert list
    Phenotypes
    • Congenital disorder of glycosylation, type Iu, OMIM:615042
    Red DPM2 in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 9.9
    Latest signed off version: v9.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    • Emory Genetics Laboratory
    • UKGTN
    Phenotypes
    • Congenital disorder of glycosylation, type Iu 615042
    Green DPM2 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.645

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Congenital disorder of glycosylation, type Iu 615042
    Green DPM2 in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 9.4
    Latest signed off version: v9.0 (6 May 2026)

    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
    • Expert Review Green
    Phenotypes
    • Congenital disorder of glycosylation, type Iu, OMIM:615042
    Green DPM2 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 7.8
    Latest signed off version: v7.0 (6 May 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Congenital disorder of glycosylation, type Iu, 615042
    Amber DPM2 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.7
    Latest signed off version: v9.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Congenital disorder of glycosylation, type Iu, OMIM:615042
    Green DPM2 in Intellectual disability


    Level 2: Developmental disorders
    Version 10.17
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Literature
    Phenotypes
    • Congenital disorder of glycosylation, type Iu, OMIM:615042
    Red DPM2 in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 8.3
    Latest signed off version: v8.0 (6 May 2026)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH