Genomics England

ubiquitin conjugating enzyme E2 T

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Confirmed Fanconi anaemia or Bloom syndrome R-numbers: R229, R258 Signed-off version 2.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes 616435 Fanconi anemia, complementation group T, Falcon anemia, Fanconi anemia, complementation group T, 616435
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP T
Green in Growth failure in early childhood R-numbers: R147 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Falcon anemia, 616435 Fanconi anemia, complementation group T, Fanconi anemia, complementation group T, 616435
Green in Haematological malignancies cancer susceptibility Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Class: BM failure FA, (typ AR), Fanconi anemia, MDS, AML, Squamous cell carcinoma: oral, GI, vulvar
Green in Limb disorders Component of the following Super Panels: - Paediatric disorders Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi Anemia, Complementation Group T, 616435
Green in Pigmentary skin disorders R-numbers: R236 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes FANCT, FANCONI ANEMIA, COMPLEMENTATION GROUP T