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| Clefting v4.70 | PUF60 |
Achchuthan Shanmugasundram changed review comment from: PMID:24140112 - One patient identified with heterozygous variant in PUF60 gene (p.His169Tyr) had cleft palate. PMID:27804958 - Five patients were reported with sequence variants in PUF60 gene and none of them had cleft lip/ palate as one of the clinical presentations. DECIPHER database - Of 27 patients with heterozygous sequence variants in PUF60, only one had submucous cleft hard palate. Sources: Literature; to: Clefting has only been identified in a minor fraction of patients with monoallelic variants in PUF60 gene and hence this gene should be rated red in this panel. PMID:24140112 - One patient identified with heterozygous variant in PUF60 gene (p.His169Tyr) had cleft palate. PMID:27804958 - Five patients were reported with sequence variants in PUF60 gene and none of them had cleft lip/ palate as one of the clinical presentations. DECIPHER database - Of 27 patients with heterozygous sequence variants in PUF60, only one had submucous cleft hard palate. Sources: Literature |
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| Clefting v4.70 | PUF60 |
Achchuthan Shanmugasundram gene: PUF60 was added gene: PUF60 was added to Clefting. Sources: Literature Mode of inheritance for gene: PUF60 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PUF60 were set to 24140112; 27804958; 37010288 Phenotypes for gene: PUF60 were set to Verheij syndrome, OMIM:615583 Review for gene: PUF60 was set to RED Added comment: PMID:24140112 - One patient identified with heterozygous variant in PUF60 gene (p.His169Tyr) had cleft palate. PMID:27804958 - Five patients were reported with sequence variants in PUF60 gene and none of them had cleft lip/ palate as one of the clinical presentations. DECIPHER database - Of 27 patients with heterozygous sequence variants in PUF60, only one had submucous cleft hard palate. Sources: Literature |
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