FANCA

Fanconi anemia complementation group A
OMIM: 607139
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, complementation group A, 227650, Fanconi anemia, 227650 Fanconi anemia complementation group A
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 A 227650
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FANCONI ANEMIA, COMPLEMENTATION GROUP A
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), Fanconi anemia, complementation group A, 227650, cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots), hearing loss, and susceptibility to cancer, predominantly acute myeloid leukemia., Fanconi Anemia, 227650 Fanconi anemia complementation group A, Fanconi anemia, bone marrow failure
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Class: BM failure FA, (typ AR), AML, leukaemia, Fanconi anaemia A, MDS, AML, Leukaemia, 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 A, 227650, Radial Ray abnormality
R-numbers: R236
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FANCA, FANCONI ANEMIA, COMPLEMENTATION GROUP A
R-numbers: R88
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group A, 227650 (Microcephaly)
R-numbers: R359
Signed-off version 2.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group A, 227650, Fanconi Anemia, Complementation Group A, Fanconi Anemia