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Clefting v4.82 SOX5 Achchuthan Shanmugasundram gene: SOX5 was added
gene: SOX5 was added to Clefting. Sources: Literature
Mode of inheritance for gene: SOX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOX5 were set to 37010288
Review for gene: SOX5 was set to RED
Added comment: Of 19 patients with sequence variants in SOX5 gene in the DECIPHER database (https://www.deciphergenomics.org/), one had cleft palate and another one had bifid uvula/ submucous cleft hard palate.
Sources: Literature