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| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.254 | FANCL | Bryony Thompson Phenotypes for gene: FANCL were changed from Primary ovarian insufficiency to Primary ovarian insufficiency; Fanconi anemia, complementation group L MIM#614083 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.253 | FANCL | Bryony Thompson Mode of inheritance for gene: FANCL was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.252 | FANCL | Bryony Thompson Classified gene: FANCL as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.252 | FANCL | Bryony Thompson Gene: fancl has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.251 | FANCL | Bryony Thompson edited their review of gene: FANCL: Changed publications: 32048394, 32851770, 11823446, 33095795, 34794894; Changed phenotypes: Primary ovarian insufficiency, Fanconi anemia, complementation group L MIM#614083; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.251 | FANCL |
Bryony Thompson changed review comment from: 2 independent cases reported with heterozygous loss of function variants and primary ovarian insufficiency. However, there is no reported evidence of POI in female carriers of FANCL pathogenic variants for fanconi anemia. Null mouse model is less fertile and has defective proliferation of germ cells. Sources: Literature; to: 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: Literature |
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| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.32 | FANCL | Bryony Thompson Marked gene: FANCL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.32 | FANCL | Bryony Thompson Gene: fancl has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.32 | FANCL |
Bryony Thompson 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 Added comment: 2 independent cases reported with heterozygous loss of function variants and primary ovarian insufficiency. However, there is no reported evidence of POI in female carriers of FANCL pathogenic variants for fanconi anemia. Null mouse model is less fertile and has defective proliferation of germ cells. Sources: Literature |
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