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| Common deletion and duplication syndromes v0.149 | ISCA-37494-Loss |
Sarah Milton Region: ISCA-37494-Loss was added Region: ISCA-37494-Loss was added to Common deletion and duplication syndromes. Sources: ClinGen Mode of inheritance for Region: ISCA-37494-Loss was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for Region: ISCA-37494-Loss were set to PMID: 25927380, 21984752 Review for Region: ISCA-37494-Loss was set to GREEN Added comment: HI3 region defined by Clingen encompasses BRCC3, CLIC2, F8, RAB39B. Interestingly described females thus far show no phenotype due to skewed X inactivation, thought to be lethal for males (some reports of increased pregnancy loss in carrier mothers) Sources: ClinGen |
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