Genomics England

FANCE

Fanconi anemia complementation group E

Panel	Mode of inheritance	Details
Filter panels10 panels
Green in Adult solid tumours cancer susceptibility Signed-off version 2.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi Anemia
Green in Childhood solid tumours R-numbers: R359 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi anemia, complementation group E, 600901, Fanconi Anaemia, Fanconi Anemia
Green in Confirmed Fanconi anaemia or Bloom syndrome R-numbers: R229, R258 Signed-off version 2.5	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi Anemia, Fanconi anemia, complementation group E, 600901, 600901 Fanconi anemia, complementation group E
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.79	BIALLELIC, autosomal or pseudoautosomal	Phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP E 600901
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.122	BIALLELIC, autosomal or pseudoautosomal	Phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP E
Green in Growth failure in early childhood R-numbers: R147 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi anemia, complementation group E, 600901, Fanconi anemia, 600901 Fanconi anemia, complementation group E, Fanconi Anemia
Green in Haematological malignancies cancer susceptibility Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Class: BM failure FA, (typ AR), AML, leukaemia, Fanconi anaemia E, MDS, Bone marrow failure, Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar
Green in Limb disorders Component of the following Super Panels: - Paediatric disorders Signed-off version 4.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi anemia, complementation group E, 600901, Radial Ray abnormality
Green in Pigmentary skin disorders R-numbers: R236 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes FANCE, FANCONI ANEMIA, COMPLEMENTATION GROUP E
Green in Severe microcephaly R-numbers: R88 Signed-off version 4.41	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi anemia, complementation group E, 600901 (Microcephaly)