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| Mendeliome v2.0 | SHOC1 | Gene symbol changed from C9orf84 to SHOC1 during gene set migration (ENSG00000165181 -> ENSG00000165181) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.158 | C9orf84 |
Zornitza Stark changed review comment from: 8 families reported with bi-allelic variants in this gene and spermatogenic failure. Sources: Literature; to: 8 families reported with bi-allelic variants in this gene and spermatogenic failure. A male germ cell-specific Shoc1 knockout mouse model recapitulates the phenotype (germline knockout: early lethality). HGNC approved name is SHOC1. Sources: Literature |
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