Activity
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9 actions
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| Fetal anomalies v6.152 | BRF1 | Arina Puzriakova Added phenotypes Cerebellofaciodental syndrome, OMIM:616202 for gene: BRF1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.150 | BRF1 | Arina Puzriakova edited their review of gene: BRF1: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.149 | BRF1 | Arina Puzriakova commented on gene: BRF1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.148 | BRF1 | Arina Puzriakova commented on gene: BRF1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.147 | BRF1 | Stephanie Allen reviewed gene: BRF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40657982; Phenotypes: Cerebellofaciodental syndrome, OMIM:616202; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.143 | BRF1 |
Arina Puzriakova Source Expert Review Green was added to BRF1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.36 | BRF1 | Achchuthan Shanmugasundram commented on gene: BRF1: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. 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, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | BRF1 | Achchuthan Shanmugasundram reviewed gene: BRF1: Rating: AMBER; Mode of pathogenicity: ; Publications: 27748960, 25561519; Phenotypes: Cerebellofaciodental syndrome, OMIM:616202; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | BRF1 |
Achchuthan Shanmugasundram gene: BRF1 was added gene: BRF1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: BRF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BRF1 were set to 27748960; 25561519 Phenotypes for gene: BRF1 were set to Cerebellofaciodental syndrome, OMIM:616202 |
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