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| Callosome v0.578 | KMT2A | Zornitza Stark Marked gene: KMT2A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.578 | KMT2A | Zornitza Stark Gene: kmt2a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.578 | KMT2A | Zornitza Stark Phenotypes for gene: KMT2A were changed from intellectual disabilty; corpus callosum anomalies; dysmorphism; growth failure; broad thumbs; microcephaly; cryptorchidism; heart malformation; epilepsy; hirsutism to Wiedemann-Steiner syndrome, MIM# 605130 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.577 | KMT2A | Zornitza Stark Mode of pathogenicity for gene: KMT2A was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.576 | KMT2A | Zornitza Stark Classified gene: KMT2A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.576 | KMT2A | Zornitza Stark Gene: kmt2a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.575 | KMT2A |
Boris Keren gene: KMT2A was added gene: KMT2A was added to Callosome. Sources: Literature Mode of inheritance for gene: KMT2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KMT2A were set to 32641752 Phenotypes for gene: KMT2A were set to intellectual disabilty; corpus callosum anomalies; dysmorphism; growth failure; broad thumbs; microcephaly; cryptorchidism; heart malformation; epilepsy; hirsutism Penetrance for gene: KMT2A were set to Incomplete Mode of pathogenicity for gene: KMT2A was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: KMT2A was set to GREEN gene: KMT2A was marked as current diagnostic Added comment: 15-20% of Wiedemann–Steiner have corpus callosum anomalies PMID: 32641752 Sources: Literature |
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