FKBP4

FK506 binding protein 4
OMIM: 600611, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber FKBP4 in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.11

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • complex neurodevelopmental disorder MONDO:0100038

Amber FKBP4 in Mendeliome


Version 1.2789

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • complex neurodevelopmental disorder MONDO:0100038

Amber FKBP4 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.203

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • complex neurodevelopmental disorder MONDO:0100038

Amber FKBP4 in Infertility and Recurrent Pregnancy Loss


Version 1.7

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Recurrent pregnancy loss susceptibility, MONDO:0000144, FKBP4-related