FILIP1

filamin A interacting protein 1
OMIM: 607307, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green FILIP1 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.417

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neuromuscular disorder, congenital, with dysmorphic facies, MIM# 620775

    Green FILIP1 in Mendeliome


    Version 1.2374

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neuromuscular disorder, congenital, with dysmorphic facies, MIM# 620775

    Green FILIP1 in Microcephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.301

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neuromuscular disorder, congenital, with dysmorphic facies, MIM# 620775

    Green FILIP1 in Muscular dystrophy and myopathy_Paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.85

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    • Literature
    Phenotypes
    • Neuromuscular disorder, congenital, with dysmorphic facies, MIM# 620775

    Green FILIP1 in Fetal anomalies


    Version 1.314

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • ANeuromuscular disorder, congenital, with dysmorphic facies, MIM# 620775