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| Infertility and Recurrent Pregnancy Loss v1.53 | ASIC5 | Zornitza Stark Marked gene: ASIC5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v1.53 | ASIC5 | Zornitza Stark Gene: asic5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v1.53 | ASIC5 | Zornitza Stark Classified gene: ASIC5 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v1.53 | ASIC5 | Zornitza Stark Gene: asic5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v1.52 | ASIC5 | Zornitza Stark reviewed gene: ASIC5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v1.48 | ASIC5 | Jasmine Chew edited their review of gene: ASIC5: Changed publications: 34395479 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v1.48 | ASIC5 |
Jasmine Chew gene: ASIC5 was added gene: ASIC5 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature Mode of inheritance for gene: ASIC5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASIC5 were set to PMID: 34395479 Phenotypes for gene: ASIC5 were set to Unexplained recurrent pregnancy loss Review for gene: ASIC5 was set to AMBER Added comment: PMID: 34395479 (2021)- WGS on a family (dead fetus and parents) from Saudi Arabia with an earlier history of three unexplained RPLs at 9th week of pregnancy revealed a novel homozygous c.680G>T, R227I missense variant inherited from parents with heterozygous variants. Another female subject was observed with an identical heterozygous variant, who is a single daughter, and her mother experienced the unexplained RPL similar with the earlier family in the ninth week of pregnancy consecutively three times. Functional analyses of the variant supported pathogenicity- reduced protein stability and prevent binding of amiloride, which is an activator to open the acid-sensing ion channel of ASIC5. Sources: Literature |
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