Genomics England

FANCA

Fanconi anemia complementation group A

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 A, 227650, Fanconi Anemia, Complementation Group A, Fanconi Anemia
Green in Confirmed Fanconi anaemia or Bloom syndrome R-numbers: R229, R258 Signed-off version 2.0	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 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP A 227650
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP A
Green in Growth failure in early childhood R-numbers: R147 Signed-off version 3.0	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
Green in Haematological malignancies cancer susceptibility Signed-off version 4.0	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
Green in Limb disorders Component of the following Super Panels: - Paediatric disorders Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi anemia, complementation group A, 227650, Radial Ray abnormality
Green in Pigmentary skin disorders R-numbers: R236 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes FANCA, FANCONI ANEMIA, COMPLEMENTATION GROUP A
Green in Severe microcephaly R-numbers: R88 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi anemia, complementation group A, 227650 (Microcephaly)