Activity
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| Fetal anomalies v6.29 | DVL2 | Arina Puzriakova reviewed gene: DVL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.28 | DVL2 | Natalie Bibb commented on gene: DVL2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.24 | DVL2 | Natalie Bibb reviewed gene: DVL2: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 35047859, 30521570, 33599851; Phenotypes: Robinow syndrome, MONDO:0019978; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.21 | DVL2 |
Arina Puzriakova Mode of pathogenicity for gene DVL2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Robinow syndrome, MONDO:0019978 for gene: DVL2 Publications for gene: DVL2 were updated from 35047859; 33599851; 30521570 to 33599851; 30521570; 35047859 |
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| Fetal anomalies v5.16 | DVL2 | Achchuthan Shanmugasundram commented on gene: DVL2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | DVL2 | Esther Kinning reviewed gene: DVL2: Rating: AMBER; Mode of pathogenicity: ; Publications: 33599851, 35047859, 30521570; Phenotypes: Robinow syndrome, MONDO:0019978; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | DVL2 |
Achchuthan Shanmugasundram gene: DVL2 was added gene: DVL2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: DVL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DVL2 were set to 35047859; 33599851; 30521570 Phenotypes for gene: DVL2 were set to Robinow syndrome, MONDO:0019978 |
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