IFT56

intraflagellar transport 56
OMIM: 617453, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green IFT56 in Cholestasis


Level 2: Gastroenterological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Biliary, renal, neurologic, and skeletal syndrome, MIM# 619534
  • Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations

Green IFT56 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Biliary, renal, neurologic, and skeletal syndrome, MIM# 619534
  • Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations

Green IFT56 in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Biliary, renal, neurologic, and skeletal syndrome, MIM# 619534
  • Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations

Green IFT56 in Fetal anomalies


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Biliary, renal, neurologic, and skeletal syndrome, MIM# 619534