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| Fetal anomalies v1.977 | ROR2 | Arina Puzriakova Phenotypes for gene: ROR2 were changed from ROR2-RELATED DISORDERS AR; BRACHYDACTYLY, TYPE B1; ROBINOW SYNDROME, AUTOSOMAL DOMINANT to Brachydactyly, type B1, OMIM:113000 (AD); Robinow syndrome, autosomal recessive, OMIM:268310 (AR) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.150 | ROR2 | Rebecca Foulger edited their review of gene: ROR2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Leave inheritance as both monoallelic and biallelic.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.149 | ROR2 | Rebecca Foulger commented on gene: ROR2: In the original PAGE file, Mode of Inheritance is recorded as Biallelic for 'ROR2-RELATED DISORDERS AR', and Monoallelic for 'BRACHYDACTYLY, TYPE B1' and 'ROBINOW SYNDROME, AUTOSOMAL DOMINANT'. All three disorders have 'Confirmed' gene:disease associations with 'Loss of function' mode-of-pathogenicity. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ROR2 | Rebecca Foulger reviewed gene: ROR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | ROR2 | Rebecca Foulger Added phenotypes ROBINOW SYNDROME, AUTOSOMAL DOMINANT for gene: ROR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | ROR2 | Rebecca Foulger Added phenotypes BRACHYDACTYLY, TYPE B1 for gene: ROR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | ROR2 |
Rebecca Foulger gene: ROR2 was added gene: ROR2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ROR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ROR2 were set to ROR2-RELATED DISORDERS AR |
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