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| Mendeliome v1.4800 | SOX9 upstream regulatory region gain |
Sarah Milton changed review comment from: The upstream regulatory region of SOX9 has been demonstrated to have key roles in transcription factor binding including binding of SRY. Increased dosage of this agenic region has been demonstrated in a number of individuals to result in 46XX sex reversal with a varying phenotype from DSD to phenotypic male. The coordinates used in this entry are the minimal critical region however reported duplications range from 3.7kb to 780kb. Incomplete penetrance has been observed. Supportive functional studies in the form of mouse models and luciferase reporter assays have been published. Note: Duplications of this region in 46,XY individuals don't result in a phenotype. Refer to ISCA-46303 loss entry. Sources: Literature; to: The upstream regulatory region of SOX9 has been demonstrated to have key roles in transcription factor binding including binding of SRY. Increased dosage of this agenic region has been demonstrated in a number of individuals to result in 46XX sex reversal with a varying phenotype from DSD to phenotypic male. The coordinates used in this entry are the minimal critical region affecting XYSR enhancer however reported duplications range from 3.7kb to 780kb. Incomplete penetrance has been observed. Supportive functional studies in the form of mouse models and luciferase reporter assays have been published. Note: Duplications of this region in 46,XY individuals don't result in a phenotype. Refer to ISCA-46303 loss entry. Sources: Literature |
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| Mendeliome v1.4800 | SOX9 upstream regulatory region gain |
Sarah Milton Region: SOX9 upstream regulatory region gain was added Region: SOX9 upstream regulatory region gain was added to Mendeliome. Sources: Literature regulatory region tags were added to Region: SOX9 upstream regulatory region gain. Mode of inheritance for Region: SOX9 upstream regulatory region gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: SOX9 upstream regulatory region gain were set to PMID: 37551848; 30552336; 31661700 Phenotypes for Region: SOX9 upstream regulatory region gain were set to 46XX sex reversal 2, MIM#278850 Penetrance for Region: SOX9 upstream regulatory region gain were set to Incomplete Review for Region: SOX9 upstream regulatory region gain was set to GREEN Added comment: The upstream regulatory region of SOX9 has been demonstrated to have key roles in transcription factor binding including binding of SRY. Increased dosage of this agenic region has been demonstrated in a number of individuals to result in 46XX sex reversal with a varying phenotype from DSD to phenotypic male. The coordinates used in this entry are the minimal critical region however reported duplications range from 3.7kb to 780kb. Incomplete penetrance has been observed. Supportive functional studies in the form of mouse models and luciferase reporter assays have been published. Note: Duplications of this region in 46,XY individuals don't result in a phenotype. Refer to ISCA-46303 loss entry. Sources: Literature |
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