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| Clefting v4.32 | KMT2A | Achchuthan Shanmugasundram Classified gene: KMT2A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v4.32 | KMT2A | Achchuthan Shanmugasundram Added comment: Comment on list classification: Although there are more than three cases reported with clefting, it is only present in a very small subsection of patients with KMT2A monoallelic variants. Hence, this gene can only be rated amber with current evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v4.32 | KMT2A | Achchuthan Shanmugasundram Gene: kmt2a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v4.31 | KMT2A |
Achchuthan Shanmugasundram gene: KMT2A was added gene: KMT2A was added to Clefting. Sources: Literature Mode of inheritance for gene: KMT2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KMT2A were set to 25929198; 30305169; 31710778; 37010288 Phenotypes for gene: KMT2A were set to Wiedemann-Steiner syndrome, OMIM:605130 Review for gene: KMT2A was set to AMBER Added comment: PMID:25929198 - De novo KMT2A variant (p.Arg1083Ter) in monozygotic twins and they had submucosal cleft palate. PMID:30305169 - Two of 14 patients with KMT2A variants and presenting with Wiedemann–Steiner syndrome had cleft palate. PMID:31710778 - Both patients reported with KMT2A variants had only high arched palate and not cleft palate. DECIPHER database - None of the reported patients had cleft lip/ palate and only one of 115 had bifid uvula (PMID:37010288) Sources: Literature |
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