FANCL

Fanconi anemia complementation group L
OMIM: 608111
PanelMode of inheritanceDetails
10 panels
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi Anemia
R-numbers: R359
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group L, 614083, Fanconi Anaemia, Fanconi Anemia
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 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FANCL-RELATED FANCONI ANEMIA 234480, FANCONI ANEMIA 229154
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group L, OMIM:614083, Fanconi anemia complementation group L, MONDO:0013566
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
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Radial Ray abnormality, Fanconi anemia, complementation group L, 614083
R-numbers: R453
Signed-off version 1.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group L, OMIM:614083
R-numbers: R236
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FANCONI ANEMIA, COMPLEMENTATION GROUP L, FANCL
R-numbers: R88
Signed-off version 5.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group L, 614083