Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: FANCI

Amber List (moderate evidence)

FANCI (Fanconi anemia complementation group I)
EnsemblGeneIds (GRCh38): ENSG00000140525
EnsemblGeneIds (GRCh37): ENSG00000140525
OMIM: 611360, Gene2Phenotype
FANCI is in 15 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

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: Literature
Created: 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

History Filter Activity

3 Apr 2024, Gel status: 2

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: fanci has been classified as Amber List (Moderate Evidence).

3 Apr 2024, Gel status: 2

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: fanci has been classified as Amber List (Moderate Evidence).

3 Apr 2024, Gel status: 1

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

Ain Roesley (Victorian Clinical Genetics Services)

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