PanelApp (test)
  1. Genes and Genomic Entities
  2. PHACTR1

PHACTR1

phosphatase and actin regulator 1
OMIM: 608723, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green PHACTR1 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Epileptic encephalopathy, early infantile, 70, MIM# 618298

Green PHACTR1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Epileptic encephalopathy, early infantile, 70, MIM# 618298

    Green PHACTR1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Epileptic encephalopathy, early infantile, 70, MIM# 618298
    • PHACTR1-associated neurodevelopment disorder