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| Mendeliome v0.12784 | PDHA2 | Zornitza Stark Marked gene: PDHA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12784 | PDHA2 | Zornitza Stark Gene: pdha2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12784 | PDHA2 |
Zornitza Stark gene: PDHA2 was added gene: PDHA2 was added to Mendeliome. 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 RED Added comment: Three individuals reported from different families with same homozygous missense variant. Same ethnic background, likely founder effect. Sources: Literature |
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