| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Infertility and Recurrent Pregnancy Loss v1.76 | ZNF185 |
Lucy Spencer gene: ZNF185 was added gene: ZNF185 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature Mode of inheritance for gene: ZNF185 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: ZNF185 were set to 39267058 Phenotypes for gene: ZNF185 were set to Azoospermia MONDO:0100459, ZNF185-related Review for gene: ZNF185 was set to RED Added comment: PMID 39267058 reports three unrelated individuals with autosomal recessive primary male infertility (all 3 had non-obstructive azoospermia). All 3 were hemizygous for different missense variants, one of which has 28 hemis and 38 hets in gnomad v4, and another has 6 hemis and 4 hets in gnomad v4. No functional or segregation evidence was provided to support the pathogenicity of these variants. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||