Activity
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10 actions
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| Fetal anomalies v6.152 | YY1AP1 | Arina Puzriakova Added phenotypes Grange syndrome, OMIM:602531 for gene: YY1AP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.150 | YY1AP1 | Arina Puzriakova edited their review of gene: YY1AP1: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.149 | YY1AP1 | Arina Puzriakova commented on gene: YY1AP1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.148 | YY1AP1 | Arina Puzriakova commented on gene: YY1AP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.147 | YY1AP1 | Soo-Mi Park reviewed gene: YY1AP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27939641, 31270375, 37698238, 31633303, 30556293, 37323195; Phenotypes: Grange syndrome, OMIM:602531; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.143 | YY1AP1 |
Arina Puzriakova gene: YY1AP1 was added gene: YY1AP1 was added to Fetal anomalies. Sources: Expert Review Green Mode of inheritance for gene: YY1AP1 was set to BIALLELIC, autosomal or pseudoautosomal |
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| Fetal anomalies v0.161 | YY1 | Rebecca Foulger edited their review of gene: YY1: 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: Phenotype is a bit non-specific, but various structural phenotypes have been reported.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | YY1 | Rebecca Foulger commented on gene: YY1: DDG2P rating in original PAGE list: Confirmed for INTELLECTUAL DISABILITY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | YY1 | Rebecca Foulger reviewed gene: YY1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | YY1 |
Rebecca Foulger gene: YY1 was added gene: YY1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: YY1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: YY1 were set to INTELLECTUAL DISABILITY |
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