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| Fetal anomalies v1.836 | PRKAG2 | Arina Puzriakova Tag for-review was removed from gene: PRKAG2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.836 | PRKAG2 | Arina Puzriakova commented on gene: PRKAG2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.835 | PRKAG2 |
Arina Puzriakova Source Expert Review Green was added to PRKAG2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v1.510 | PRKAG2 | Arina Puzriakova Phenotypes for gene: PRKAG2 were changed from Cardiomyopathy, hypertrophic 6; Glycogen storage disease of heart, lethal congenital to Cardiomyopathy, hypertrophic 6, OMIM:600858; Hypertrophic cardiomyopathy 6, MONDO:0010946; Glycogen storage disease of heart, lethal congenital, OMIM:261740; Lethal congenital glycogen storage disease of heart, MONDO:0009867 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.498 | PRKAG2 | Arina Puzriakova Classified gene: PRKAG2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.498 | PRKAG2 | 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 v1.498 | PRKAG2 | Arina Puzriakova Gene: prkag2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.497 | PRKAG2 | Arina Puzriakova Tag for-review tag was added to gene: PRKAG2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.205 | PRKAG2 |
Rhiannon Mellis gene: PRKAG2 was added gene: PRKAG2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PRKAG2 were set to Cardiomyopathy, hypertrophic 6; Glycogen storage disease of heart, lethal congenital Review for gene: PRKAG2 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): Neuromuscular disorders Sources: Expert list |
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