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| Fetal anomalies v0.216 | EMG1 | Rebecca Foulger Classified gene: EMG1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.216 | EMG1 | Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber awaiting further published/clinical evidence. Phenotype is fetally-relevant (see review from Deirdre Cilliers) but current gene:disease evidence for Bowen-Conradi syndrome is limited to Hutterite families (PMID:19463982). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.216 | EMG1 | Rebecca Foulger Gene: emg1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.108 | EMG1 | Rebecca Foulger Phenotypes for gene: EMG1 were changed from Bowen-Conradi syndrome; Bowen-Conradi syndrome 211180 to Bowen-Conradi syndrome; Bowen-Conradi syndrome, 211180 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.86 | EMG1 | Rebecca Foulger Mode of pathogenicity for gene: EMG1 was changed from to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.85 | EMG1 | Rebecca Foulger commented on gene: EMG1: Bowen-Conradi syndrome includes marked prenatal and postnatal growth retardation, microcephaly, a prominent nose with an absent glabellar angle, micrognathia, joint abnormalities including flexion contractures, camptodactyly, rocker-bottom feet, and severe psychomotor delay (PMID:19463982). So far, one EMG1 variant (D86G) recorded for Bowen-Conradi Syndrome, with virtually all affected babies born into Hutterite families. PMID:19463982 does however report that there are at least 4 published (Russian, German, Turkish and two Indian babies) and four unpublished reports of non-Hutterite babies with BCS-compatible features. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.85 | EMG1 | Rebecca Foulger Publications for gene: EMG1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.85 | EMG1 | Rebecca Foulger Mode of pathogenicity for gene: EMG1 was changed from to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.84 | EMG1 | Rebecca Foulger commented on gene: EMG1: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019): Yes [EMG1 should be on the Fetal anomalies panel]. There are structural findings that will be identified on ultrasound scan, namely IUGR, microcephaly, cleft lip and hypospadias (even rocker bottom feet can sometimes be identified on ultrasound scan, although testing would not be offered for this in isolation). These findings are less frequent in the condition, but will be ascertained prenatally. Poor outcome also and this would be useful information for parents to consider in pregnancy – although it is a rare condition. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | EMG1 | Rebecca Foulger Tag watchlist tag was added to gene: EMG1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | EMG1 | Rebecca Foulger commented on gene: EMG1: 'watchlist' tag added to highlight different DD-G2P ratings for this gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | EMG1 | Rebecca Foulger reviewed gene: EMG1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | EMG1 |
Rebecca Foulger Source PAGE Additional Gene List was added to EMG1. Added phenotypes Bowen-Conradi syndrome 211180 for gene: EMG1 |
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| Fetal anomalies v0.1 | EMG1 |
Rebecca Foulger gene: EMG1 was added gene: EMG1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: EMG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EMG1 were set to Bowen-Conradi syndrome |
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