FAAP100

FA core complex associated protein 100
OMIM: 611301, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green FAAP100 in Bone Marrow Failure


Level 2: Haematological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Fanconi anemia, complementation group X, MIM# 621258

Green FAAP100 in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Fanconi anaemia, complementation group X, MIM# 621258

Green FAAP100 in Radial Ray Abnormalities


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Fanconi anaemia, complementation group X, MIM# 621258

Green FAAP100 in Fetal anomalies


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Fanconi anaemia, complementation group X, MIM# 621258