FANCC

Fanconi anemia complementation group C
OMIM: 613899
PanelMode of inheritanceDetails
10 panels
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi Anemia
R-numbers: R229, R258
Signed-off version 1.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi Anemia, 227645 Fanconi anemia, complementation group C, Fanconi anemia, complementation group C, 227645
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FANCONI ANEMIA, COMPLEMENTATION GROUP C 227645
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FANCONI ANEMIA, COMPLEMENTATION GROUP C
R-numbers: R147
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
pre- and postnatal growth retardation, a typical facial appearance with small head, eyes, and mouth, hypogonadism and reduced fertility, malformations of the kidneys, heart, and skeleton (absent or abnormal thumbs and radii), cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots), hearing loss, and susceptibility to cancer, predominantly acute myeloid leukemia., Fanconi Anemia, Fanconi anemia, complementation group C, 227645, Fanconi anemia, bone marrow failure, 227645 Fanconi anemia, complementation group C
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Class: BM failure FA, (typ AR), Fanconi anemia, AML, leukaemia, Fanconi anaemia C, MDS, AML, Leukaemia, 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 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group C, 227645, Radial Ray abnormality
R-numbers: R236
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FANCONI ANEMIA, COMPLEMENTATION GROUP C, FANCC
R-numbers: R88
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group C, 227645 (Microcephaly)
R-numbers: R359
Signed-off version 2.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group C, 227645, Fanconi Anaemia, Fanconi Anemia