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| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.249 | FANCA | Bryony Thompson Phenotypes for gene: FANCA were changed from Primary ovarian insufficiency to Primary ovarian insufficiency; Fanconi anemia, complementation group A MIM#227650 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.248 | FANCA | Bryony Thompson Mode of inheritance for gene: FANCA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.247 | FANCA |
Bryony Thompson changed review comment from: 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 Sources: Literature; to: 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: Literature |
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| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.247 | FANCA | Bryony Thompson edited their review of gene: FANCA: Changed phenotypes: Primary ovarian insufficiency, Fanconi anemia, complementation group A MIM#227650; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.247 | FANCA | Bryony Thompson Marked gene: FANCA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.247 | FANCA | Bryony Thompson Gene: fanca has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.247 | FANCA | Bryony Thompson Classified gene: FANCA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.247 | FANCA | Bryony Thompson Gene: fanca has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.246 | FANCA |
Bryony Thompson 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 Added comment: 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 Sources: Literature |
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