PIDD1

p53-induced death domain protein 1
OMIM: 605247, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green PIDD1 in Malformations of cortical development


Level 2: Neurology
Version 7.38
Latest signed off version: v7.0 (30 Oct 2024)

Component of the following Super Panels:

  • Cerebral malformation
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Intellectual disability
    • Pachygyria
    • Lissencephaly
    • Seizures
    Green PIDD1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.157
    Latest signed off version: v6.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, OMIM:619827
    Green PIDD1 in DDG2P


    Version 6.426
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • PIDD1-related neurodevelopmental disorder
    Green PIDD1 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.147
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Other
    • Literature
    Phenotypes
    • Global developmental delay
    • Intellectual disability
    • Seizures
    • Autism
    • Behavioral abnormality
    • Psychosis
    • Pachygyria
    • Lissencephaly
    • Abnormality of the corpus callosum
    Green PIDD1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.304
    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
    • Other
    • Literature
    Phenotypes
    • Global developmental delay
    • Intellectual disability
    • Seizures
    • Autism
    • Behavioral abnormality
    • Psychosis
    • Pachygyria
    • Lissencephaly
    • Abnormality of the corpus callosum