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| Clefting v4.91 | CDK13 |
Achchuthan Shanmugasundram changed review comment from: PMID:29222009 - One of three patients reported with de novo heterozygous CDK13 variants had submucosal cleft palate. DECIPHER database - Only one of 42 patients reported with heterozygous sequence variants in CDK13 gene had orofacial cleft as one of the phenotypes. Sources: Literature; to: Clefting was reported only in a minor proportion of patients with monoallelic CDK13 variants. PMID:29222009 - One of three patients reported with de novo heterozygous CDK13 variants had submucosal cleft palate. DECIPHER database - Only one of 42 patients reported with heterozygous sequence variants in CDK13 gene had orofacial cleft as one of the phenotypes. Sources: Literature |
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| Clefting v4.91 | CDK13 |
Achchuthan Shanmugasundram changed review comment from: PMID:29222009 - One of three patients reported with de novo heterozygous CDK13 variants had submucosal cleft palate. DECIPHER database - Only one of 42 patients reported with heterozygous sequence variants in CDK13 gene had orofacial cleft as one of the phenotypes. Sources: Literature; to: PMID:29222009 - One of three patients reported with de novo heterozygous CDK13 variants had submucosal cleft palate. DECIPHER database - Only one of 42 patients reported with heterozygous sequence variants in CDK13 gene had orofacial cleft as one of the phenotypes. Sources: Literature |
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| Clefting v4.91 | CDK13 |
Achchuthan Shanmugasundram gene: CDK13 was added gene: CDK13 was added to Clefting. Sources: Literature Mode of inheritance for gene: CDK13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CDK13 were set to 29222009; 37010288 Review for gene: CDK13 was set to RED Added comment: PMID:29222009 - One of three patients reported with de novo heterozygous CDK13 variants had submucosal cleft palate. DECIPHER database - Only one of 42 patients reported with heterozygous sequence variants in CDK13 gene had orofacial cleft as one of the phenotypes. Sources: Literature |
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