Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: FANCL
2 independent cases reported with heterozygous loss of function variants and primary ovarian insufficiency. Also, homozygous frameshift insertion identified in a POI case without any known features of fanconi anaemia. Null mouse model is less fertile and has defective proliferation of germ cells.
Sources: LiteratureCreated: 28 Aug 2020, 4:42 a.m. | Last Modified: 5 Dec 2021, 11:45 p.m.
Panel Version: 0.251
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Primary ovarian insufficiency; Fanconi anemia, complementation group L MIM#614083
Publications
Phenotypes for gene: FANCL were changed from Primary ovarian insufficiency to Primary ovarian insufficiency; Fanconi anemia, complementation group L MIM#614083
Mode of inheritance for gene: FANCL was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene: fancl has been classified as Amber List (Moderate Evidence).
Gene: fancl has been classified as Red List (Low Evidence).
gene: FANCL was added gene: FANCL was added to Amenorrhoea. Sources: Literature Mode of inheritance for gene: FANCL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FANCL were set to 32048394; 32851770; 11823446 Phenotypes for gene: FANCL were set to Primary ovarian insufficiency Review for gene: FANCL was set to AMBER