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| Groopman et al 2019 - Genes with diagnostic variants v0.4 | ANOS1 | Eleanor Williams reviewed gene: ANOS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Groopman et al 2019 - Genes with diagnostic variants v0.3 | ANOS1 | Eleanor Williams Source Expert Review Red was added to ANOS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Groopman et al 2019 - Genes with diagnostic variants v0.2 | ANOS1 |
Eleanor Williams gene: ANOS1 was added gene: ANOS1 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: ANOS1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: ANOS1 were set to MIM 308700; Glomerulopathy; Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) |
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