Genomics England

FANCL

Fanconi anemia complementation group L

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 L, 614083, 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 L, 614083, 614083Fanconi anemia, complementation group L
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes FANCL-RELATED FANCONI ANEMIA 234480, FANCONI ANEMIA 229154
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi anemia, complementation group L, OMIM:614083, Fanconi anemia complementation group L, MONDO:0013566
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 6.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Radial Ray abnormality, Fanconi anemia, complementation group L, 614083
Green in Monogenic short stature R-numbers: R453 Signed-off version 1.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi anemia, complementation group L, OMIM:614083
Green in Pigmentary skin disorders R-numbers: R236 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP L, FANCL
Green in Severe microcephaly R-numbers: R88 Signed-off version 6.8	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi anemia, complementation group L, 614083