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| Infertility and Recurrent Pregnancy Loss v0.69 | FGA | Zornitza Stark Marked gene: FGA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.69 | FGA | Zornitza Stark Added comment: Comment when marking as ready: Variants are missense/indels with limited other supporting information, hence Amber rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.69 | FGA | Zornitza Stark Gene: fga has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.69 | FGA | Zornitza Stark Classified gene: FGA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.69 | FGA | Zornitza Stark Gene: fga has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.63 | FGA |
Jasmine Chew gene: FGA was added gene: FGA was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: FGA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FGA were set to 29016666; 34925444 Phenotypes for gene: FGA were set to Recurrent pregnancy loss Review for gene: FGA was set to GREEN Added comment: i) PMID: 29016666- A heterozygous missense p.Phe685Cys called pathogenic in a female with RPL (3 miscarriages, all embryonic loss) and fragment molecular orbital analysis showed that the p.F685C variant led to changes in total interaction energy, thus leading to protein instability ii) PMID: 34925444: Two heterozygous FGA variants were identified in two women, each with three consecutive miscarriages- one variant (NM_000508.5: c.1906_1908del; p.636del) leading to the deletion of an amino acid was not found in public databases. The other variant in FGA (p.A762V) causing an amino acid substitution was extremely rare in East Asian populations in the gnomAD database and was predicted to be deleterious by in silico prediction tools. - " Mutations of FGA have been linked to coagulation pathologies including afibrinogenemia (OMIM:202400) and dysfibrinogenemia/hypodysfibrinogenemia (OMIM:616004), which can result in miscarriage (PMID: 31368232). Sources: Literature |
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