Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: FANCI
WES however FANCI was specifically looked at based on KO mouse model which had premature exhaustion of primordial follicles leading to complete sterility.
2x compound hets: 2x missense + 1x canonical splice+1x missense
Minigene performed on the splice variant
Functional assays using KO cells + expression of variant demonstrated reduced ubiquitination of FANCI and increased DNA damage under replication stress
Sources: LiteratureCreated: 3 Apr 2024, 11:29 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
primary ovarian failure MONDO:0005387, FANCI-related
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: fanci has been classified as Amber List (Moderate Evidence).
Gene: fanci has been classified as Amber List (Moderate Evidence).
gene: FANCI was added gene: FANCI was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCI were set to 38483614 Review for gene: FANCI was set to AMBER gene: FANCI was marked as current diagnostic