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Primary immunodeficiency

Gene: FANCI

Red List (low evidence)

FANCI (Fanconi anemia complementation group I)
EnsemblGeneIds (GRCh38): ENSG00000140525
EnsemblGeneIds (GRCh37): ENSG00000140525
OMIM: 611360, Gene2Phenotype
FANCI is in 22 panels

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History Filter Activity

26 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Louise Daugherty (Genomics England Curator)

gene: FANCI was added gene: FANCI was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCI were set to 32086639; 32048120 Phenotypes for gene: FANCI were set to Fanconi anemia, complementation group I, 609053; Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage; Fanconi Anemia Type I; Bone marrow failure