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| Fetal anomalies v0.311 | GCDH | Rebecca Foulger edited their review of gene: GCDH: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team). Outcome of review: Phenotypes include macrocephaly, structural brain- usually present with metabolic crises. Therefore upgrade from Red to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.310 | GCDH |
Rebecca Foulger Source Expert Review Green was added to GCDH. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Fetal anomalies v0.135 | GCDH |
Rebecca Foulger Source Expert Review Red was added to GCDH. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.134 | GCDH | Rebecca Foulger edited their review of gene: GCDH: 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 GCDH gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GCDH | Rebecca Foulger commented on gene: GCDH: DDG2P rating in original PAGE list: Confirmed for GLUTARICACIDEMIA TYPE 1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | GCDH | Rebecca Foulger reviewed gene: GCDH: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | GCDH |
Rebecca Foulger gene: GCDH was added gene: GCDH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GCDH were set to GLUTARICACIDEMIA TYPE 1 |
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