FILIP1

filamin A interacting protein 1
OMIM: 607307, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green FILIP1 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

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

Green FILIP1 in Mendeliome


Version 2.0

2 reviews 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 2.0

2 reviews 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 2.0

2 reviews 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 2.0

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