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| Skeletal dysplasia v2.190 | DVL2 |
Michael Oldridge gene: DVL2 was added gene: DVL2 was added to Skeletal dysplasia. Sources: Expert Review Mode of inheritance for gene: DVL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DVL2 were set to PMID: 35047859 Phenotypes for gene: DVL2 were set to autosomal dominant Robinow sydrome Penetrance for gene: DVL2 were set to Complete Mode of pathogenicity for gene: DVL2 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: DVL2 was set to GREEN Added comment: De novo fs variant in final exon of DVL2 identified in patient with clinical diagnosis of Robinow syndrome. This leads to a 103 residue missense tail extending beyond the WT stop codon. A number of similar fs variants have been identified in DVL1 and DVL3 leading to autosomal dominant Robinow syndrome; these variants also lead to extended missense tails and are therefore thought to act via a very specific gain of function mechanism (LOF variants in these genes do not lead to Robinow). DVL1, 2 and 3 share considerable homology (59-67%) and have overlapping function during development. Only reported in 1 case but the very specific nature of the mutation explains rareity. Should be tested as Green. Sources: Expert Review |
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| Skeletal dysplasia v1.153 | DVL3 | Eleanor Williams Added phenotypes Robinow syndrome, autosomal dominant 3, 616894 for gene: DVL3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.147 | DVL3 | Tracy Lester reviewed gene: DVL3: Rating: GREEN; Mode of pathogenicity: ; Publications: 26924530; Phenotypes: Robinow syndrome, autosomal dominant 3, 616894; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.146 | DVL3 | Eleanor Williams reviewed gene: DVL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.145 | DVL3 |
Eleanor Williams Source NHS GMS was added to DVL3. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| Skeletal dysplasia v1.123 | DVL3 | Louise Daugherty Phenotypes for gene: DVL3 were changed from Robinow syndrome, autosomal dominant 3 616894 to Robinow syndrome, autosomal dominant 3, 616894 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.113 | DVL3 | Sarah Leigh Publications for gene: DVL3 were set to PMID: 26924530 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.113 | DVL3 | Sarah Leigh Classified gene: DVL3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.113 | DVL3 | Sarah Leigh Gene: dvl3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.109 | DVL3 |
Rachel Jones gene: DVL3 was added gene: DVL3 was added to Unexplained skeletal dysplasia. Sources: Other Mode of inheritance for gene: DVL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DVL3 were set to PMID: 26924530 Phenotypes for gene: DVL3 were set to Robinow syndrome, autosomal dominant 3 616894 Penetrance for gene: DVL3 were set to unknown Review for gene: DVL3 was set to GREEN Added comment: 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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