PLXNA1

plexin A1
OMIM: 601055, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green PLXNA1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.163
Latest signed off version: v6.0 (30 Apr 2025)

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955
Red PLXNA1 in DDG2P


Version 6.432
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • PLXNA1-associated neurodevelopmental disorder (biallelic)
    • PLXNA1-associated neurodevelopmental disorder with seizures (monoallelic)
    Green PLXNA1 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.159
    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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • developmental and epileptic encephalopathy, MONDO:0100062
    Green PLXNA1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.327
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955
    • developmental and epileptic encephalopathy, MONDO:0100062