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| Infertility and Recurrent Pregnancy Loss v0.47 | PDHA2 | Zornitza Stark Marked gene: PDHA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.47 | PDHA2 | Zornitza Stark Gene: pdha2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.47 | PDHA2 | Zornitza Stark Classified gene: PDHA2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.47 | PDHA2 | Zornitza Stark Gene: pdha2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.46 | PDHA2 | Zornitza Stark reviewed gene: PDHA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure 70, MIM# 619828; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.12 | PDHA2 |
Jasmine Chew changed review comment from: i) PMID: 29581481- a homozygous missense variant (M227V) in 3 infertile brothers from a consanguineous Algerian family with male infertility (owing to azoospermia, sperm immotility or necrospermia) ii) PubMed: 35172124- previously reported homozygous missense variant (M227V) in 2 unrelated infertile Tunisian men with NOA Sources: Literature; to: i) PMID: 29581481- a homozygous missense variant (M227V) in 3 infertile brothers from a consanguineous Algerian family with male infertility (owing to azoospermia, sperm immotility or necrospermia) ii) PMID: 35172124- previously reported homozygous missense variant (M227V) in 2 unrelated infertile Tunisian men with NOA Sources: Literature |
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| Infertility and Recurrent Pregnancy Loss v0.12 | PDHA2 |
Jasmine Chew gene: PDHA2 was added gene: PDHA2 was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: PDHA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDHA2 were set to 29581481; 35172124 Phenotypes for gene: PDHA2 were set to Spermatogenic failure 70, MIM# 619828 Review for gene: PDHA2 was set to GREEN Added comment: i) PMID: 29581481- a homozygous missense variant (M227V) in 3 infertile brothers from a consanguineous Algerian family with male infertility (owing to azoospermia, sperm immotility or necrospermia) ii) PubMed: 35172124- previously reported homozygous missense variant (M227V) in 2 unrelated infertile Tunisian men with NOA Sources: Literature |
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