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Infertility and Recurrent Pregnancy Loss v0.129 | ERCC6 | Zornitza Stark Marked gene: ERCC6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Infertility and Recurrent Pregnancy Loss v0.129 | ERCC6 | Zornitza Stark Gene: ercc6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Infertility and Recurrent Pregnancy Loss v0.129 | ERCC6 | Zornitza Stark Classified gene: ERCC6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Infertility and Recurrent Pregnancy Loss v0.129 | ERCC6 | Zornitza Stark Gene: ercc6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Infertility and Recurrent Pregnancy Loss v0.103 | ERCC6 |
Jasmine Chew gene: ERCC6 was added gene: ERCC6 was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: ERCC6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ERCC6 were set to 26218421; 33109206; 33538981; 39277148; 35975393 Phenotypes for gene: ERCC6 were set to Premature ovarian failure 11, MIM# 616946 Review for gene: ERCC6 was set to GREEN Added comment: FeRGI database- moderate evidence for POI- PMID:26218421, 33109206, 33538981 (heterozygous variants reported) New papers: i) PMID: 39277148- Two different missense p.Val127Ile and p.Glu1408 Ala in 4 POI patients with RNA and protein expression absent/decreased in patients. ii) PMID: 35975393- A novel het p.GLy815Asp in a POI patient and Swiss-Model revealed that the mutant amino acid formed multiple H-bonds with adjacent residues, which may lead to a dysfunction of ERCC6 protein. Sources: Literature |