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| Mendeliome v1.4693 | WDTC1 | Lucy Spencer Classified gene: WDTC1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4693 | WDTC1 | Lucy Spencer Gene: wdtc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4692 | WDTC1 |
Lucy Spencer gene: WDTC1 was added gene: WDTC1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: WDTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: WDTC1 were set to 41793087 Phenotypes for gene: WDTC1 were set to Neurodevelopmental disorder MONDO:0700092, WDTC1-related Review for gene: WDTC1 was set to AMBER Added comment: PMID 41793087 reports 7 individuals from 6 unrelated families with heterozygous variants in WDTC1. 1 from the DDD study. 3 missense, 2 PTCs, 1 canonical splice. 2 missense and 1 PTC were de novo, no inheritance info for the splice. The other PTC was inherited from an affected mother (mild ID and seizures), and the other missense was paternally inherited from an unaffected father- this variant Arg675Gln also has 15 hets in gnomad. The other 2 missense are also present in gnomad with 2 and 7 hets, while the PTC and splice variants are absent or only have 1 het (PTCS in general are also rare in gnomad in this gene). The features in these probands were quite general- developmental delay, intellectual disability, seizures and variable additional features such as autism, ADHD and facial dysmorphism. No experimental functional validation was provided. Only counting the PTCs and splice due to the gnomad counts for the missense we have 4 patients from 3 families, only 1 de novo, 1 inherited from a mildly affected mother and all with a very general phenotype with no experimental evidence. Keeping as amber for the moment Sources: Literature |
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