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 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP E 600901
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP E
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 5.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi anemia, complementation group E, 600901, Radial Ray abnormality
Green in Monogenic short stature R-numbers: R453 Signed-off version 1.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi anemia, complementation group E, OMIM:600901
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 5.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi anemia, complementation group E, 600901 (Microcephaly)