Genomics England

FANCI

Fanconi anemia complementation group I

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 Anaemia, Fanconi Anemia, Fanconi anemia, complementation group I, 609053
Green in Confirmed Fanconi anaemia or Bloom syndrome R-numbers: R229, R258 Signed-off version 2.5	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi anemia, complementation group I, 609053, Fanconi Anemia, 609053 Fanconi anemia, complementation group I
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes FANCI-RELATED FANCONI ANEMIA 234476, FANCONI ANEMIA 229154
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes FANCI-RELATED FANCONI ANEMIA, FANCONI ANEMIA
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, 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 I, 609053, 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 I, OMIM:609053
Green in Pigmentary skin disorders R-numbers: R236 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes FANCI, FANCONI ANEMIA, COMPLEMENTATION GROUP I
Green in Severe microcephaly R-numbers: R88 Signed-off version 5.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi anemia, complementation group I, 609053