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| Fetal anomalies v0.331 | KCTD7 | Rebecca Foulger commented on gene: KCTD7: Kept rating of KCTD7 as Red, following review of Neuronal ceroid lipofuscinosis genes by Richard Scott (Genomics England clinical team). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.223 | KCTD7 |
Rebecca Foulger Source Expert Review Red was added to KCTD7. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.222 | KCTD7 | Rebecca Foulger edited their review of gene: KCTD7: 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: Thin corpus collosum in one family. Action taken: Demoted KCTD7 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | KCTD7 | Rebecca Foulger commented on gene: KCTD7: DDG2P rating in original PAGE list: Confirmed for NEURONAL CEROID LIPOFUSCINOSIS and Confirmed for PROGRESSIVE MYOCLONIC EPILEPSY TYPE 3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | KCTD7 | Rebecca Foulger reviewed gene: KCTD7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | KCTD7 | Rebecca Foulger Added phenotypes PROGRESSIVE MYOCLONIC EPILEPSY TYPE 3 for gene: KCTD7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | KCTD7 |
Rebecca Foulger gene: KCTD7 was added gene: KCTD7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: KCTD7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KCTD7 were set to NEURONAL CEROID LIPOFUSCINOSIS |
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