PARP6

poly(ADP-ribose) polymerase family member 6
Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber PARP6 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 8.1
Latest signed off version: v8.0 (12 Aug 2026)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Microcephaly
  • Intellectual disability
  • Epilepsy
Amber PARP6 in Early onset or syndromic epilepsy


Level 2: Neurology
Version 9.61
Latest signed off version: v9.56 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Expert Review Amber
    Phenotypes
    • Intellectual disability
    • Epilepsy
    • Microcephaly
    Tags
    • watchlist
    Amber PARP6 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.7
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Intellectual disability
    • Epilepsy
    • Microcephaly
    Tags
    • watchlist