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| Fetal anomalies v0.134 | ARX | Rebecca Foulger edited their review of gene: ARX: 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.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ARX | Rebecca Foulger commented on gene: ARX: DDG2P rating in original PAGE list: Confirmed for MENTAL RETARDATION X-LINKED ARX-RELATED, Confirmed for AGENESIS OF THE CORPUS CALLOSUM WITH ABNORMAL GENITALIA, Confirmed for PARTINGTON SYNDROME, Confirmed for EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 1 and Confirmed for LISSENCEPHALY X-LINKED TYPE 2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | ARX | Rebecca Foulger reviewed gene: ARX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | ARX | Rebecca Foulger Added phenotypes LISSENCEPHALY X-LINKED TYPE 2 for gene: ARX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | ARX | Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 1 for gene: ARX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | ARX | Rebecca Foulger Added phenotypes PARTINGTON SYNDROME for gene: ARX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | ARX | Rebecca Foulger Added phenotypes AGENESIS OF THE CORPUS CALLOSUM WITH ABNORMAL GENITALIA for gene: ARX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | ARX |
Rebecca Foulger gene: ARX was added gene: ARX was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ARX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ARX were set to MENTAL RETARDATION X-LINKED ARX-RELATED |
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