1. Genes and Genomic Entities
  2. PLAA

PLAA

phospholipase A2 activating protein
OMIM: 603873, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red PLAA in Severe microcephaly


Level 2: Neurology
Version 8.44
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
  • Other
Phenotypes
  • Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, 617527
Green PLAA in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.187
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, OMIM:617527
Green PLAA in DDG2P


Version 6.447
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Lethal Infantile Epileptic Encephalopathy
    Green PLAA in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.178
    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
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies 617527
    • Lethal Infantile Epileptic Encephalopathy
    Green PLAA in Intellectual disability


    Level 2: Developmental disorders
    Version 9.376
    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
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Expert Review Green
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, 617527
    • NDMSBA
    • Epileptic Encephalopathy
    No list PLAA in Hereditary neuropathy or pain disorder


    Level 2: Neurology
    Version 7.45
    Latest signed off version: v7.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    Phenotypes
    • lipodystrophy
    • peripheral neuropathy
    Tags
    • curated_removed