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| Fetal anomalies v1.575 | EMG1 | Zornitza Stark Publications for gene: EMG1 were set to 19463982 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.574 | EMG1 |
Zornitza Stark edited their review of gene: EMG1: Added comment: Affected individuals present with severe developmental delay, microcephaly, growth failure, micrognathia, joint contractures and early death. Functional studies show loss‑of‑function through protein destabilisation, reduced EMG1 levels, binucleate fibroblasts, G2/M arrest, impaired 18S rRNA processing and recapitulation of the phenotype in a mouse knock‑in model. GDA to remain as AMBER as the same founder variant in the Hutterite population has been reported in the additional PMIDs and could potentially be the same families. Further reports would be required to upgrade to Green.; Changed publications: 19463982, 27798105, 26676230, 25708872 |
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| Fetal anomalies v0.2344 | EMG1 | Zornitza Stark Marked gene: EMG1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2344 | EMG1 | Zornitza Stark Gene: emg1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2344 | EMG1 | Zornitza Stark Phenotypes for gene: EMG1 were changed from Bowen-Conradi syndrome, 211180; Bowen-Conradi syndrome to Bowen-Conradi syndrome, MIM#211180 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2343 | EMG1 | Zornitza Stark Tag founder tag was added to gene: EMG1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2343 | EMG1 |
Zornitza Stark changed review comment from: Founder mutation in Hutterite, D86G. Sources: Expert list; to: Founder mutation in Hutterite, D86G. SGA, contractures. Sources: Expert list |
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| Fetal anomalies v0.0 | EMG1 |
Zornitza Stark gene: EMG1 was added gene: EMG1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: EMG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EMG1 were set to 19463982 Phenotypes for gene: EMG1 were set to Bowen-Conradi syndrome, 211180; Bowen-Conradi syndrome Mode of pathogenicity for gene: EMG1 was set to Other |
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