1. Genes and Genomic Entities
  2. PITRM1

PITRM1

pitrilysin metallopeptidase 1
Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green PITRM1 in Ataxia and cerebellar anomalies - narrow panel


Level 2: Neurology
Version 8.72
Latest signed off version: v8.0 (30 Apr 2025)

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
    • Spinocerebellar ataxia, autosomal recessive 30, OMIM:619405
    Green PITRM1 in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 8.105
    Latest signed off version: v8.0 (30 Apr 2025)

    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
    • NHS GMS
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive 30, OMIM:619405
    Red PITRM1 in Possible mitochondrial disorder - nuclear genes


    Level 2: Mitochondrial
    Version 4.23
    Latest signed off version: v4.0 (30 Apr 2025)

    		review Unknown
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • No OMIM phenotype
    Green PITRM1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.346
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review
    • Expert Review Green
    • Expert Review Green
    • Expert Review
    • Literature
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive 30, OMIM:619405
    Green PITRM1 in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 9.47
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive 30, OMIM:619405