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| Growth failure in early childhood v3.27 | FANCG | Arina Puzriakova Added comment: Comment on phenotypes: Previous phenotypes (overwritten): 614082 Fanconi anemia, complementation group G;pre- and postnatal growth retardation;a typical facial appearance with small head, eyes, and mouth;hypogonadism and reduced fertility;Fanconi anemia, complementation group G, 614082;Fanconi anemia complementation group G;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;bone marrow failure | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v3.27 | FANCG | Arina Puzriakova Phenotypes for gene: FANCG were changed from 614082 Fanconi anemia, complementation group G; pre- and postnatal growth retardation; a typical facial appearance with small head, eyes, and mouth; hypogonadism and reduced fertility; Fanconi anemia, complementation group G, 614082; Fanconi anemia complementation group G; 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; bone marrow failure to Fanconi anemia, complementation group G, OMIM:614082 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v0.41 | FANCG | Ivone Leong Publications for gene: FANCG were set to 16493006 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v0.25 | FANCG | Rebecca Foulger reviewed gene: FANCG: Rating: AMBER; Mode of pathogenicity: ; Publications: 9806548; Phenotypes: Fanconi Anemia, 614082 Fanconi anemia, complementation group G, Fanconi anemia, complementation group G, 614082; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v0.24 | FANCG | Rebecca Foulger Added phenotypes 614082 Fanconi anemia, complementation group G; Fanconi anemia, complementation group G, 614082; Fanconi Anemia for gene: FANCG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v0.1 | FANCG |
Ellen McDonagh gene: FANCG was added gene: FANCG was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCG were set to 16493006 Phenotypes for gene: FANCG were set to cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots); pre- and postnatal growth retardation; Fanconi anemia; hearing loss; Fanconi anemia, complementation group G, 614082; a typical facial appearance with small head, eyes, and mouth; and susceptibility to cancer, predominantly acute myeloid leukemia.; Fanconi Anemia; Fanconi anemia complementation group G; bone marrow failure; malformations of the kidneys, heart, and skeleton (absent or abnormal thumbs and radii); hypogonadism and reduced fertility |
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