PLXNA1

plexin A1
OMIM: 601055, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red PLXNA1 in Brain Calcification


Level 2: Neurology and neurodevelopmental disorders
Version 2.6

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Dworschak-Punetha neurodevelopmental syndrome, MIM# 619955

    Amber PLXNA1 in Differences of Sex Development


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.36

    1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Hypogonadotropic hypogonadism MONDO:0018555, PLXNA1-related

    Green PLXNA1 in Mendeliome


    Version 1.4220

    2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Dworschak-Punetha neurodevelopmental syndrome, MIM# 619955
    • Hypogonadotropic hypogonadism MONDO:0018555, PLXNA1-related

    Green PLXNA1 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.362

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Dworschak-Punetha neurodevelopmental syndrome, MIM# 619955

    Green PLXNA1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.638

    2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Dworschak-Punetha neurodevelopmental syndrome, MIM# 619955