Activity
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| Fetal anomalies v6.152 | BUB1 | Arina Puzriakova Added phenotypes Microcephaly 30, primary, autosomal recessive, OMIM:620183 for gene: BUB1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.148 | BUB1 | Arina Puzriakova commented on gene: BUB1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.147 | BUB1 | Natalie Chandler reviewed gene: BUB1: Rating: AMBER; Mode of pathogenicity: ; Publications: 35044816; Phenotypes: Microcephaly 30, primary, autosomal recessive, OMIM:620183; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.146 | BUB1 |
Arina Puzriakova gene: BUB1 was added gene: BUB1 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: BUB1 was set to BIALLELIC, autosomal or pseudoautosomal |
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| Fetal anomalies v0.134 | BUB1B | Rebecca Foulger edited their review of gene: BUB1B: 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 Green. Additional notes from clinical review: Phenotype includes structural defects.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | BUB1B | Rebecca Foulger reviewed gene: BUB1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | BUB1B |
Rebecca Foulger gene: BUB1B was added gene: BUB1B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: BUB1B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BUB1B were set to MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 |
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