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 9.26
Latest signed off version: v9.13 (12 Aug 2026)

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 8.5
Latest signed off version: v8.0 (12 Aug 2026)

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 8.2
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
    • PEHO Like condition
    Green PRUNE1 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.28
    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
    • 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