1. Genes and Genomic Entities
  2. PRUNE1

PRUNE1

prune exopolyphosphatase 1
OMIM: 617413, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green PRUNE1 in Severe microcephaly


Level 2: Neurology
Version 8.31
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • microcephaly, spasticity, developmental delay
  • Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies OMIM:617481
  • neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies MONDO:0060490
Green PRUNE1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, OMIM:617481
  • Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, MONDO:0060490
Green PRUNE1 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • PEHO Like condition
    Green PRUNE1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    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 Green
    • Expert Review Green
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies OMIM:617481
    • neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies MONDO:0060490
    • NMIHBA
    • Complex neurological syndrome