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Fetal anomalies v1.860 | FAM46A | Arina Puzriakova commented on gene: FAM46A: Added new-gene-name tag, new approved HGNC gene symbol is TENT5A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.860 | FAM46A | Arina Puzriakova Tag new-gene-name tag was added to gene: FAM46A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | FAM46A | Arina Puzriakova Tag for-review was removed from gene: FAM46A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | FAM46A | Arina Puzriakova commented on gene: FAM46A: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.835 | FAM46A |
Arina Puzriakova Source Expert Review Green was added to FAM46A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v1.401 | FAM46A | Arina Puzriakova Phenotypes for gene: FAM46A were changed from Osteogenesis imperfecta, type XVIII to Osteogenesis imperfecta, type XVIII, OMIM:617952; Osteogenesis imperfecta, type 18, MONDO:0044329 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.400 | FAM46A | Arina Puzriakova Classified gene: FAM46A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.400 | FAM46A | Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). 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 'for-review' tag) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.400 | FAM46A | Arina Puzriakova Gene: fam46a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.399 | FAM46A | Arina Puzriakova Tag for-review tag was added to gene: FAM46A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.215 | FAM46A |
Rhiannon Mellis gene: FAM46A was added gene: FAM46A was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: FAM46A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAM46A were set to Osteogenesis imperfecta, type XVIII Review for gene: FAM46A was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Osteogenesis imperfecta; Skeletal dysplasia Sources: Expert list |