Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: FANCA
PMID: 33025164 - a mouse model heterozygous for a hypomorphic variant (c.3581del9, p.QEA1194-1196del) had impaired follicle development and sub-fertility.
PMID: 32962729 - a POI case heterozygous for a rare missense variant (p.H780Q)
PMID: 31535215 - 2 unrelated Chinese POI cases with 2 different rare missense variants (p.R591Q, 42 hets in gnomAD v2.1 & p.E1296G), both with supporting in vitro functional assays. Also, a heterozygous loss of function (Fanca+/-) mouse model showed reduced fertility and declined numbers of follicles with aging
PMID: 10915769 - female knockout mice demonstrate hypogonadism and infertility
Hypergonadotropic hypogonadism is listed as an endocrine feature of the Fanconi anaemia phenotype in OMIM.
Sources: LiteratureCreated: 30 Nov 2021, 2:11 a.m. | Last Modified: 5 Dec 2021, 11:23 p.m.
Panel Version: 0.247
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Primary ovarian insufficiency; Fanconi anemia, complementation group A MIM#227650
Publications
Phenotypes for gene: FANCA were changed from Primary ovarian insufficiency to Primary ovarian insufficiency; Fanconi anemia, complementation group A MIM#227650
Mode of inheritance for gene: FANCA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene: fanca has been classified as Amber List (Moderate Evidence).
Gene: fanca has been classified as Amber List (Moderate Evidence).
gene: FANCA was added gene: FANCA was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: FANCA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FANCA were set to 34794894; 33025164; 31535215; 10915769 Phenotypes for gene: FANCA were set to Primary ovarian insufficiency Review for gene: FANCA was set to AMBER