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| Fetal anomalies v1.836 | EIF5A | Arina Puzriakova Tag Q4_21_rating was removed from gene: EIF5A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.836 | EIF5A | Arina Puzriakova commented on gene: EIF5A: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.835 | EIF5A |
Arina Puzriakova Source Expert Review Green was added to EIF5A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v1.761 | EIF5A | Arina Puzriakova Classified gene: EIF5A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.761 | EIF5A | Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'Q4_21_rating' tag) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.761 | EIF5A | Arina Puzriakova Gene: eif5a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.760 | EIF5A | Arina Puzriakova Publications for gene: EIF5A were set to PMID: 33547280 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.759 | EIF5A | Arina Puzriakova Phenotypes for gene: EIF5A were changed from Faundes-Banka syndrome to Faundes-Banka syndrome, OMIM:619376 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.758 | EIF5A | Arina Puzriakova Tag Q4_21_rating tag was added to gene: EIF5A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.749 | EIF5A |
Rhiannon Mellis gene: EIF5A was added gene: EIF5A was added to Fetal anomalies. Sources: Literature,Expert Review Mode of inheritance for gene: EIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EIF5A were set to PMID: 33547280 Phenotypes for gene: EIF5A were set to Faundes-Banka syndrome Review for gene: EIF5A was set to GREEN Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. Details of review: Faundes et al 2021 (PMID: 33547280) report this as a novel disease gene associated with micrognathia, microcephaly, IUGR and Kabuki-like phenotype. Now on OMIM as of August 2021. 7 unrelated patients in this publication. Sources: Literature, Expert Review |
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