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Fetal anomalies v1.836 | PRUNE1 | Arina Puzriakova Tag for-review was removed from gene: PRUNE1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | PRUNE1 | Arina Puzriakova commented on gene: PRUNE1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.835 | PRUNE1 |
Arina Puzriakova Source Expert Review Green was added to PRUNE1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v1.613 | PRUNE1 | Eleanor Williams Publications for gene: PRUNE1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.518 | PRUNE1 | Arina Puzriakova Phenotypes for gene: PRUNE1 were changed from PEHO Like condition to Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, OMIM:617481; Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, MONDO:0060490 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.517 | PRUNE1 | Arina Puzriakova Classified gene: PRUNE1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.517 | PRUNE1 | Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.517 | PRUNE1 | Arina Puzriakova Gene: prune1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.516 | PRUNE1 | Arina Puzriakova Tag for-review tag was added to gene: PRUNE1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.203 | PRUNE1 | Rhiannon Mellis reviewed gene: PRUNE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | PRUNE1 | Rebecca Foulger reviewed gene: PRUNE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | PRUNE1 |
Rebecca Foulger gene: PRUNE1 was added gene: PRUNE1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PRUNE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRUNE1 were set to PEHO Like condition |