FNIP1

folliculin interacting protein 1
OMIM: 610594, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green FNIP1 in Mendeliome


Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705

Green FNIP1 in Predominantly Antibody Deficiency


Level 2: Immunological disorders
Version 2.0

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Literature
Phenotypes
  • Hypertrophic Cardiomyopathy
  • Primary Immunodeficiency
  • Agammaglobulinemia
  • Neutropenia
  • Immunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705

Green FNIP1 in Combined Immunodeficiency


Level 2: Immunological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705

Green FNIP1 in Cardiomyopathy_Paediatric


Level 2: Cardiovascular disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705