FKBP4:Ensemblv90

FK506 binding protein 4
OMIM: 600611, ClinGen, DECIPHER

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 1.27

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

Amber FKBP4 in Mendeliome


Version 1.3802

1 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 1.508

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

Amber FKBP4 in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

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