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| Clefting v4.69 | POLR2A |
Achchuthan Shanmugasundram gene: POLR2A was added gene: POLR2A was added to Clefting. Sources: Literature Mode of inheritance for gene: POLR2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POLR2A were set to 31353023; 37010288 Phenotypes for gene: POLR2A were set to Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, OMIM:618603 Review for gene: POLR2A was set to RED Added comment: This gene should be rated red as clefting has only been reported in a minor fraction of patients with monoallelic variants in POLR2A. PMID:31353023 - 16 individuals were identified with heterozygous variants in POLR2A, of which only one patient had cleft lip. DECIPHER database - Of 14 patients with heterozygous sequence variants, one had cleft palate and another had bifid uvula. Sources: Literature |
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