Activity
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9 actions
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| Fetal anomalies v8.26 | SCN8A | Ida Ertmanska commented on gene: SCN8A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v8.25 | SCN8A | Sunayna Best reviewed gene: SCN8A: Rating: AMBER; Mode of pathogenicity: ; Publications: 31026061, 27659738; Phenotypes: developmental and epileptic encephalopathy, 13, MONDO:0013801, Developmental and epileptic encephalopathy 13, OMIM:614558; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v8.23 | SCN8A |
Ida Ertmanska Source Expert Review Amber was added to SCN8A. Source NHS GMS was added to SCN8A. Mode of inheritance for gene SCN8A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes developmental and epileptic encephalopathy, 13, MONDO:0013801; Developmental and epileptic encephalopathy 13, OMIM:614558 for gene: SCN8A Publications for gene: SCN8A were updated from to 31026061; 27659738 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v0.165 | SCN8A |
Rebecca Foulger Source Expert Review Red was added to SCN8A. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.161 | SCN8A | Rebecca Foulger edited their review of gene: SCN8A: 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 SCN8A gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SCN8A | Rebecca Foulger commented on gene: SCN8A: DDG2P rating in original PAGE list: Confirmed for COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA and Confirmed for EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | SCN8A | Rebecca Foulger reviewed gene: SCN8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | SCN8A | Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13 for gene: SCN8A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | SCN8A |
Rebecca Foulger gene: SCN8A was added gene: SCN8A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SCN8A were set to COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA |
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