1. Genes and Genomic Entities
  2. PCLO

PCLO

piccolo presynaptic cytomatrix protein
OMIM: 604918, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Red PCLO in Ataxia and cerebellar anomalies - narrow panel


Level 2: Neurology
Version 8.76
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
    • Expert Review Red
    Phenotypes
    • Pontocerebellar Hypoplasia type 3
    • Pontocerebellar hypoplasia 3 homozygous non-sense variant identified in the affected individuals of a single pedigree.
    Red PCLO in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.344

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert Review
    Phenotypes
    • Pontocerebellar hypoplasia 3 homozygous non-sense variant identified in the affected individuals of a single pedigree.
    Red PCLO in Severe microcephaly


    Level 2: Neurology
    Version 8.43
    Latest signed off version: v8.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert list
    Phenotypes
    • Pontocerebellar hypoplasia, type 3, 608027
    Red PCLO in Cerebellar hypoplasia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.86

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Pontocerebellar Hypoplasia type 3
    Red PCLO in Adult onset neurodegenerative disorder


    Level 2: Neurology
    Version 8.21
    Latest signed off version: v8.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Pontocerebellar hypoplasia 3 homozygous non-sense variant identified in the affected individuals of a single pedigree.
    Amber PCLO in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.185
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • Pontocerebellar hypoplasia, type 3, OMIM:608027
    Red PCLO in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.173
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review Not set
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    Red PCLO in Intellectual disability


    Level 2: Developmental disorders
    Version 9.370
    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
    • Victorian Clinical Genetics Services
    • Literature
    Phenotypes
    • Pontocerebellar hypoplasia, type 3
    Red PCLO in Hereditary ataxia with onset in adulthood


    Level 2: Neurology
    Version 8.30
    Latest signed off version: v8.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Red
    • Hereditary ataxia v1.148
    Phenotypes
    • Pontocerebellar hypoplasia 3 homozygous non-sense variant identified in the affected individuals of a single pedigree.
    • Pontocerebellar hypoplasia type 3, 608027