1. Genes and Genomic Entities
  2. PMPCB

PMPCB

peptidase, mitochondrial processing beta subunit
OMIM: 603131, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green PMPCB in Ataxia and cerebellar anomalies - childhood onset


Level 2: Neurology
Version 9.32
Latest signed off version: v9.22 (12 Aug 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
    • Expert list
    Phenotypes
    • Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954
    • multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785
    Green PMPCB in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 9.30
    Latest signed off version: v9.29 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954
    • multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785
    Green PMPCB in Possible mitochondrial disorder, nuclear genes


    Level 2: Mitochondrial
    Version 5.23
    Latest signed off version: v5.17 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954
    • multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785
    Green PMPCB in DDG2P


    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Neurodegeneration in Early Childhood
    Green PMPCB in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.73
    Latest signed off version: v9.56 (12 Aug 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
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954
    • multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785
    Green PMPCB in Intellectual disability


    Level 2: Developmental disorders
    Version 11.26
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Literature
    Phenotypes
    • Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954
    • multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785
    Green PMPCB in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 10.23
    Latest signed off version: v10.18 (12 Aug 2026)

    Component of the following Super Panels:

  • Leukodystrophy, childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954
    • multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785
    Green PMPCB in Hereditary ataxia, adult onset


    Level 2: Neurology
    Version 9.10
    Latest signed off version: v9.4 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954
    • multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785