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| Clefting v4.71 | SIN3A |
Achchuthan Shanmugasundram gene: SIN3A was added gene: SIN3A was added to Clefting. Sources: Literature Mode of inheritance for gene: SIN3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SIN3A were set to 33437032; 37010288 Phenotypes for gene: SIN3A were set to Witteveen-Kolk syndrome, OMIM:613406 Review for gene: SIN3A was set to RED Added comment: Clefting was reported only in a minor fraction of patients (<10%) and hence should be rated red. PMID:33437032 - Of 28 patients with heterozugous variants in SIN3A gene, one patient had submucous cleft hard palate and another with deletion variant had orofacial cleft (both these are reported in DECIPHER database). DECIPHER database - In addition to the above mentioned patients, one with heterozygous sequence variant had submucous cleft soft panel (from 31 in total), while an additional patient with deletion had cleft hard palate (from 54 patients with CNV variants). Sources: Literature |
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