Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: FANCAEnsemblGeneIds (GRCh38): ENSG00000187741
EnsemblGeneIds (GRCh37): ENSG00000187741
OMIM: 607139, Gene2Phenotype
FANCA is in 15 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
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
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Primary ovarian insufficiency
- Fanconi anemia, complementation group A MIM#227650
- OMIM
- 607139
- Clinvar variants
- Variants in FANCA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Chromosome Breakage Disorders
- Prepair 1000+
- Microcephaly
- Bone Marrow Failure
- BabyScreen+ newborn screening
- Cancer Predisposition_Paediatric
- Primary Ovarian Insufficiency_Premature Ovarian Failure
- Radial Ray Abnormalities
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- IBMDx study
- Prepair 500+
- Growth failure
History Filter Activity
Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)Phenotypes for gene: FANCA were changed from Primary ovarian insufficiency to Primary ovarian insufficiency; Fanconi anemia, complementation group A MIM#227650
Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)Mode of inheritance for gene: FANCA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: fanca has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: fanca has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)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