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Fetal anomalies v5.78 EMG1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: EMG1.
Tag Q1_23_promote_green was removed from gene: EMG1.
Fetal anomalies v5.78 EMG1 Achchuthan Shanmugasundram edited their review of gene: EMG1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.77 EMG1 Achchuthan Shanmugasundram Source Expert Review Green was added to EMG1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.74 EMG1 Achchuthan Shanmugasundram Tag watchlist was removed from gene: EMG1.
Tag Q1_25_ NHS_review tag was added to gene: EMG1.
Tag Q1_23_promote_green tag was added to gene: EMG1.
Fetal anomalies v5.16 EMG1 Achchuthan Shanmugasundram commented on gene: EMG1
Fetal anomalies v5.15 EMG1 Esther Kinning reviewed gene: EMG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19463982; Phenotypes: Bowen-Conradi syndrome, MIM#211180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.13 EMG1 Achchuthan Shanmugasundram Source NHS GMS was added to EMG1.
Fetal anomalies v5.12 EMG1 Achchuthan Shanmugasundram Phenotypes for gene: EMG1 were changed from Bowen-Conradi syndrome; Bowen-Conradi syndrome, 211180 to Bowen-Conradi syndrome, OMIM:211180
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
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