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| Fetal anomalies v1.808 | FMR1 | Arina Puzriakova Phenotypes for gene: FMR1 were changed from FRAGILE X SYNDROME; FRAGILE X TREMOR/ATAXIA SYNDROME; PREMATURE OVARIAN FAILURE SYNDROME TYPE 1 to Fragile X syndrome, OMIM:300624; Fragile X tremor/ataxia syndrome, OMIM:300623 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.222 | FMR1 | Rebecca Foulger edited their review of gene: FMR1: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.221 | FMR1 | Rebecca Foulger Classified gene: FMR1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.221 | FMR1 | Rebecca Foulger Gene: fmr1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.220 | FMR1 | Rebecca Foulger commented on gene: FMR1: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FMR1 gene rating from Amber to Red. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.110 | FMR1 | Rebecca Foulger commented on gene: FMR1: Changed rating to Amber to reflect DDG2P Disease confidence of 'both DD and IF' for FRAGILE X TREMOR/ATAXIA SYNDROME; PREMATURE OVARIAN FAILURE SYNDROME TYPE 1. FMR1 also rated 'confirmed' for FRAGILE X SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.109 | FMR1 |
Rebecca Foulger Source Expert Review Amber was added to FMR1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v0.5 | FMR1 | Rebecca Foulger commented on gene: FMR1: Multiple ratings in original PAGE file: rated as confirmed for FRAGILE X SYNDROME. Rated as both DD and IF for: PREMATURE OVARIAN FAILURE SYNDROME TYPE 1 and FRAGILE X TREMOR/ATAXIA SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | FMR1 | Rebecca Foulger reviewed gene: FMR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | FMR1 | Rebecca Foulger Added phenotypes PREMATURE OVARIAN FAILURE SYNDROME TYPE 1 for gene: FMR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | FMR1 | Rebecca Foulger Added phenotypes FRAGILE X SYNDROME for gene: FMR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | FMR1 |
Rebecca Foulger gene: FMR1 was added gene: FMR1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FMR1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: FMR1 were set to FRAGILE X TREMOR/ATAXIA SYNDROME |
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