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| Intellectual disability syndromic and non-syndromic v1.41 | WASHC3 | Zornitza Stark Marked gene: WASHC3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v1.41 | WASHC3 | Zornitza Stark Gene: washc3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v1.41 | WASHC3 |
Zornitza Stark gene: WASHC3 was added gene: WASHC3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: WASHC3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: WASHC3 were set to DOI: https://doi.org/10.1016/j.gimo.2024.101915 Phenotypes for gene: WASHC3 were set to neurodevelopmental disorder MONDO:0700092, WASHC3 related Review for gene: WASHC3 was set to RED Added comment: One family with de novo missense. Two families with homozygous start loss variant. The functional evidence provided does not directly link to the human phenotype. Given two variants and two different MOIs, RED rating. Sources: Literature |
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