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 0.416

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

Green FILIP1 in Mendeliome


Version 1.2302

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 1.295

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 1.313

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