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| Fetal anomalies v0.226 | EDAR |
Rebecca Foulger Source Expert Review Red was added to EDAR. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Fetal anomalies v0.225 | EDAR | Rebecca Foulger edited their review of gene: EDAR: 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: In agreement with previous review by Deirdre Cilliers, no structural phenotypes would present on a fetal scan. Action taken: Demoted EDAR gene rating from Amber to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.81 | EDAR | Rebecca Foulger Classified gene: EDAR as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.81 | EDAR | Rebecca Foulger Added comment: Comment on list classification: Changed rating from Green to Amber. Originally rated as Green based on 'Confirmed' DDG2P rating for Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive. However, Deidre Cilliers advised that the ectodermal phenotype would not present as structural abnormalities on a scan. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.81 | EDAR | Rebecca Foulger Gene: edar has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.80 | EDAR | Rebecca Foulger commented on gene: EDAR: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019): No [EDAR should not be on the Fetal anomalies panel]. The AD and AR ectodermal dysplasia are not going to present as structural anomalies on scan and it would be difficult if there is a VUS present. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.80 | EDAR | Rebecca Foulger Added comment: Comment on phenotypes: Note that Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490 is additional phenotype in OMIM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.80 | EDAR | Rebecca Foulger Phenotypes for gene: EDAR were changed from Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive to Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | EDAR | Rebecca Foulger commented on gene: EDAR: DDG2P rating in original PAGE list: Confirmed for Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | EDAR | Rebecca Foulger reviewed gene: EDAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | EDAR |
Rebecca Foulger gene: EDAR was added gene: EDAR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: EDAR was set to Unknown Phenotypes for gene: EDAR were set to Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive |
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