Activity
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| Fetal anomalies v4.183 | KCNQ1 | Achchuthan Shanmugasundram Phenotypes for gene: KCNQ1 were changed from Long QT syndrome 1, OMIM:192500; JERVELL AND LANGE-NIELSEN SYNDROME TYPE 1 to Long QT syndrome 1, OMIM:192500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | KCNQ1 | Achchuthan Shanmugasundram commented on gene: KCNQ1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | KCNQ1 | Anna de Burca reviewed gene: KCNQ1: Rating: RED; Mode of pathogenicity: ; Publications: 27539165; Phenotypes: Long QT syndrome 1, OMIM:192500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | KCNQ1 |
Achchuthan Shanmugasundram Source NHS GMS was added to KCNQ1. Mode of inheritance for gene KCNQ1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Long QT syndrome 1, OMIM:192500 for gene: KCNQ1 Publications for gene: KCNQ1 were updated from to 27539165 |
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| Fetal anomalies v0.223 | KCNQ1 |
Rebecca Foulger Source Expert Review Red was added to KCNQ1. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.222 | KCNQ1 | Rebecca Foulger edited their review of gene: KCNQ1: Added comment: 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. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Risk of incidental findings. Action taken: Demoted KCNQ1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | KCNQ1 | Rebecca Foulger reviewed gene: KCNQ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | KCNQ1 |
Rebecca Foulger gene: KCNQ1 was added gene: KCNQ1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: KCNQ1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KCNQ1 were set to JERVELL AND LANGE-NIELSEN SYNDROME TYPE 1 |
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