Growth failure in early childhood
Gene: FANCCComment on phenotypes: Previous phenotypes (overwritten): 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 CCreated: 26 Mar 2024, 3:45 p.m. | Last Modified: 26 Mar 2024, 3:45 p.m.
Panel Version: 3.23
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that Green genes associated with the Fanconi anaemia phenotype should be included on this panel. Therefore kept on the panel as a Green gene.Created: 30 May 2019, 9:51 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi Anemia; 227645 Fanconi anemia, complementation group C; Fanconi anemia, complementation group C, 227645
Publications
Phenotypes for gene: FANCC were changed from 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 to Fanconi anemia, complementation group C, OMIM:227645
Publications for gene: FANCC were set to 16493006
Added phenotypes Fanconi anemia, complementation group C, 227645; 227645 Fanconi anemia, complementation group C; Fanconi Anemia for gene: FANCC
gene: FANCC was added gene: FANCC was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCC were set to 16493006 Phenotypes for gene: FANCC were set to cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots); pre- and postnatal growth retardation; Fanconi anemia; hearing loss; a typical facial appearance with small head, eyes, and mouth; and susceptibility to cancer, predominantly acute myeloid leukemia.; Fanconi Anemia; Fanconi anemia, complementation group C, 227645; bone marrow failure; malformations of the kidneys, heart, and skeleton (absent or abnormal thumbs and radii); hypogonadism and reduced fertility