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| Fetal anomalies v0.170 | MECP2 | Rebecca Foulger Publications for gene: MECP2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.169 | MECP2 | Rebecca Foulger commented on gene: MECP2: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetal exome sequencing in Lord et al., 2019 (PMID:30712880). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.135 | MECP2 |
Rebecca Foulger Source Expert Review Red was added to MECP2. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.134 | MECP2 | Rebecca Foulger edited their review of gene: MECP2: 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: Phenotype is not fetally-relevant. Action taken: Demoted MECP2 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | MECP2 | Rebecca Foulger commented on gene: MECP2: DDG2P rating in original PAGE list: Confirmed for RETT SYNDROME (RTT)[, Confirmed for MENTAL RETARDATION SYNDROMIC X-LINKED LUBS TYPE, Confirmed for MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 13, Confirmed for CHROMOSOME XQ28 DUPLICATION SYNDROME, and Confirmed for ENCEPHALOPATHY NEONATAL SEVERE DUE TO MECP2 MUTATIONS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | MECP2 | Rebecca Foulger reviewed gene: MECP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | MECP2 | Rebecca Foulger Added phenotypes ENCEPHALOPATHY NEONATAL SEVERE DUE TO MECP2 MUTATIONS for gene: MECP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | MECP2 | Rebecca Foulger Added phenotypes CHROMOSOME XQ28 DUPLICATION SYNDROME for gene: MECP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | MECP2 | Rebecca Foulger Added phenotypes MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 13 for gene: MECP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | MECP2 | Rebecca Foulger Added phenotypes MENTAL RETARDATION SYNDROMIC X-LINKED LUBS TYPE for gene: MECP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | MECP2 |
Rebecca Foulger gene: MECP2 was added gene: MECP2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MECP2 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: MECP2 were set to RETT SYNDROME (RTT)[ |
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