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| Clefting v4.64 | MAGEL2 |
Achchuthan Shanmugasundram gene: MAGEL2 was added gene: MAGEL2 was added to Clefting. Sources: Literature Mode of inheritance for gene: MAGEL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAGEL2 were set to 31397880; 37010288 Phenotypes for gene: MAGEL2 were set to Schaaf-Yang syndrome, OMIM:615547 Review for gene: MAGEL2 was set to RED Added comment: Cleft palate is a minor feature of Schaaf-Yang syndrome and is present only in less than 10% of cases. Hence, this gene should be rated red. PMID:31397880 - One of five patients presented in this study with heterozygous variants in MAGEL2 gene had cleft palate. DECIPHER database - One of 20 patients with heterozygous sequence variants in MAGEL2 had cleft palate. Sources: Literature |
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