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| Clefting v4.76 | TCF12 |
Achchuthan Shanmugasundram gene: TCF12 was added gene: TCF12 was added to Clefting. Sources: Literature Mode of inheritance for gene: TCF12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TCF12 were set to 23354436; 31353793; 37010288 Phenotypes for gene: TCF12 were set to Craniosynostosis 3, OMIM:615314 Review for gene: TCF12 was set to RED Added comment: Clefting has only been rarely reported in patients with TCF12 variants and hence this gene should be rated red. PMID:23354436 - One of 73 individuals (from 38 families) reported with craniosynostosis and identified with heterozygous variants in TCF12 gene had cleft lip and cleft palate. PMID:31353793 - Of two cases reported with heterozygous TCF12 variants, one had hidden cleft palate. DECIPHER database - One of 11 patients with heterozygous sequence variants in TCF12 had bifid uvula. Sources: Literature |
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