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| Clefting v1.32 | DVL3 | Louise Daugherty Classified gene: DVL3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v1.32 | DVL3 | Louise Daugherty Added comment: Comment on list classification: changed rating from Red to Green. There is enough evidence to support the upgrading of the rating of this gene | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v1.32 | DVL3 | Louise Daugherty Gene: dvl3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v1.31 | DVL3 |
Louise Daugherty gene: DVL3 was added gene: DVL3 was added to Clefting. Sources: Other Mode of inheritance for gene: DVL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DVL3 were set to 26924530; 29575616 Phenotypes for gene: DVL3 were set to Robinow syndrome, autosomal dominant 3, 616894 Review for gene: DVL3 was set to GREEN Added comment: PMID: 26924530 White et al. (2016) described five patients with Robinow syndrome-3 and identified heterozygosity for mutations in DVL3, all predicted to result in a frameshift to the -1 reading frame and a premature termination codon in the last exon. From Gel clinical team: Stittrich et al (PMID: 26924530 ) looked for variants in DVL3 in patients with Robinow syndrome and no previously identified mutation; because mutations had previously described in DVL1 and there was functional redundancy between the genes. They identified 4 de novo frameshift variants in their cohort of 17 patients. Danyal et al (PMID: 29575616) identified a frame shift variant in a further patient with Robinow syndrome. Sources: Other |
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