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| Growth failure in early childhood v3.22 | FANCB | Arina Puzriakova Phenotypes for gene: FANCB were changed from Fanconi Anemia Type B; VACTERL Association with Hydrocephalus; 300514 Fanconi anemia, complementation group B; Fanconi Anemia, X-Linked; Fanconi Anaemia; Fanconi anemia; Falcon anemia; Fanconi anemia, complementation group B, 300514 to Fanconi anemia, complementation group B, OMIM:300514 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v0.25 | FANCB | Rebecca Foulger reviewed gene: FANCB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Falcon anemia, Fanconi Anemia Type B, 300514 Fanconi anemia, complementation group B, Fanconi Anemia, X-Linked, Fanconi Anaemia, Fanconi anemia, complementation group B, 300514; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v0.24 | FANCB | Rebecca Foulger Added phenotypes Fanconi Anemia Type B; Fanconi Anemia, X-Linked; Fanconi Anaemia; 300514 Fanconi anemia, complementation group B; Falcon anemia; Fanconi anemia, complementation group B, 300514 for gene: FANCB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v0.1 | FANCB |
Ellen McDonagh gene: FANCB was added gene: FANCB was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: FANCB were set to Fanconi anemia, complementation group B, 300514; Fanconi Anemia, X-Linked; VACTERL Association with Hydrocephalus; Fanconi anemia |
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