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| Infertility and Recurrent Pregnancy Loss v2.0 | PADI6 | Gene migrated from ENSG00000276747 to ENSG00000276747 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v1.149 | PADI6 | Zornitza Stark changed review comment from: Inheritance is biallelic: PMID 34987164 reports 13 unrelated families (14 patients) with biallelic loss‑of‑function PADI6 variants causing early embryonic arrest (2‑7 cell stage) and female infertility.; to: PMID 34987164 reports 13 unrelated families (14 patients) with biallelic loss‑of‑function PADI6 variants causing early embryonic arrest (2‑7 cell stage) and female infertility. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v1.149 | PADI6 | Zornitza Stark Publications for gene: PADI6 were set to 29693651; 33583041; 33221824; 27730629; 27545678 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v1.148 | PADI6 | Zornitza Stark reviewed gene: PADI6: Rating: GREEN; Mode of pathogenicity: None; Publications: 34987164; Phenotypes: Oocyte/zygote/embryo maturation arrest 16, #MIM 617234; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.45 | PADI6 | Zornitza Stark Marked gene: PADI6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.45 | PADI6 | Zornitza Stark Gene: padi6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.45 | PADI6 | Zornitza Stark Classified gene: PADI6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.45 | PADI6 | Zornitza Stark Gene: padi6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.12 | PADI6 |
Jasmine Chew gene: PADI6 was added gene: PADI6 was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: PADI6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PADI6 were set to 29693651; 33583041; 33221824; 27730629; 27545678 Phenotypes for gene: PADI6 were set to Oocyte/zygote/embryo maturation arrest 16, #MIM 617234 Review for gene: PADI6 was set to GREEN Added comment: i) PMID: 29693651- a compound het variant (N598S and R682Q) in a female with a total of six pregnancy losses from natural spontaneous conceptions, two of them were initially diagnosed as miscarriages and four as molar pregnancy. ii) PMID: 33583041- a novel homozygous missense variant (p.Ile599Asn) in a woman with a total of seven pregnancy losses from spontaneous conceptions, four HMs including two with fetuses and three miscarriages. iii) PMID: 33221824- a compound het variant (p.Thr372Ala and p.Trp690*) in a German woman with and miscarriages and also occurrence of multilocus imprinting disturbance (MLID) in two children each carrying a heterozygous variant.. iv) PMID: 27730629- a homozygous nonsense variant (p.Arg457*) in a Saudi woman with primary infertility and early development arrest during embryonic cleavage stages after in vitro fertilization. v) PMID: 27545678- homozygous nonsense variant (p.Gln381∗) in one familial case (consisting of three sisters) and compound heterozygous variants in 2 other unrelated patients with primary infertility and early development arrest during embryonic cleavage stages after in vitro fertilization. Sources: Literature |
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