Groopman et al 2019 - Genes with diagnostic variantsGene: FANCB
From Groopman et al 2019 Table S7. Gene symbol: FANCB; Inheritance: X-linked; Clinical diagnosis: Congenital or cystic renal disease; Genetic diagnosis: Fanconi anemia complementation group B; OMIM phenotype MIM No.: 300514; Number of cases: 1
Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.
Panel Version: 0.4
Source Expert Review Red was added to FANCB.
gene: FANCB was added gene: FANCB was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red 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 Congenital or cystic renal disease; Fanconi anemia complementation group B; MIM 300514