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| Skeletal dysplasia v3.5 | DVL2 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: DVL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v3.5 | DVL2 |
Eleanor Williams Tag Q2_21_NHS_review was removed from gene: DVL2. Tag Q2_22_rating was removed from gene: DVL2. Tag Q2_22_expert_review was removed from gene: DVL2. |
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| Skeletal dysplasia v3.5 | DVL2 | Eleanor Williams changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v3.5 | DVL2 | Eleanor Williams edited their review of gene: DVL2: Added comment: The rating of this gene has been updated togreenand the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v3.4 | DVL2 |
Eleanor Williams Source Expert Review Green was added to DVL2. Source NHS GMS was added to DVL2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Skeletal dysplasia v2.202 | DVL2 | Eleanor Williams Classified gene: DVL2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.202 | DVL2 | Eleanor Williams Added comment: Comment on list classification: Promoting from grey to amber, but with a recommendation for consideration for GREEN rating following GMS review. Although only 1 case has been reported, supporting evidence comes from canine data and from the fact that similar causative variants associated with Robinow syndrome have been found in the other two Dishevelled paralogs. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.202 | DVL2 | Eleanor Williams Gene: dvl2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.201 | DVL2 | Eleanor Williams Tag Q2_22_expert_review tag was added to gene: DVL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.201 | DVL2 | Eleanor Williams Publications for gene: DVL2 were set to PMID: 35047859 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.200 | DVL2 |
Eleanor Williams Tag Q2_21_NHS_review tag was added to gene: DVL2. Tag Q2_22_rating tag was added to gene: DVL2. |
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| Skeletal dysplasia v2.200 | DVL2 | Eleanor Williams reviewed gene: DVL2: Rating: ; Mode of pathogenicity: None; Publications: 35047859, 33599851, 30521570; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.200 | DVL2 | Eleanor Williams Phenotypes for gene: DVL2 were changed from autosomal dominant Robinow sydrome to autosomal dominant Robinow sydrome; Robinow syndrome, MONDO:0019978 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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