PRUNE1

prune exopolyphosphatase 1
OMIM: 617413, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green PRUNE1 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.267
Latest signed off version: v2.2 (2 Mar 2020)

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

Amber PRUNE1 in Fetal anomalies


Version 1.749
Latest signed off version: v1.92 (21 Aug 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • 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
Tags
  • for-review

Amber PRUNE1 in DDG2P


Version 2.50
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • 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 3.1396
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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

    Green PRUNE1 in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, 617481