PRUNE1

prune exopolyphosphatase 1
OMIM: 617413, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green PRUNE1 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.74

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • microcephaly, spasticity, developmental delay

Amber PRUNE1 in Fetal anomalies


Version 0.346

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PEHO Like condition

Amber PRUNE1 in DDG2P


Version 1.148

Component of the following Super Panels:

  • Paediatric disorders v4.357
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • PEHO Like condition

    Green PRUNE1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.1098

    Component of the following Super Panels:

  • Paediatric disorders v4.357
  • White matter disorders - childhood onset v4.205
  • Hypotonic infant with a likely central cause v3.1025
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, 617481
    • NMIHBA
    • Complex neurological syndrome