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Fetal anomalies v1.836 | ABL1 | Arina Puzriakova Tag for-review was removed from gene: ABL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | ABL1 | Arina Puzriakova commented on gene: ABL1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.835 | ABL1 |
Arina Puzriakova Source Expert Review Green was added to ABL1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v1.293 | ABL1 | Arina Puzriakova Phenotypes for gene: ABL1 were changed from Congenital heart defects and skeletal malformations to Congenital heart defects and skeletal malformations, OMIM:617602; Congenital heart defects and skeletal malformations syndrome, MONDO:0060532 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.292 | ABL1 | Arina Puzriakova Classified gene: ABL1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.292 | ABL1 | 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 'for-review' tag) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.292 | ABL1 | Arina Puzriakova Gene: abl1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.291 | ABL1 | Arina Puzriakova Tag for-review tag was added to gene: ABL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.185 | ABL1 | Rhiannon Mellis reviewed gene: ABL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital heart defects and skeletal malformations syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | ABL1 | Rebecca Foulger commented on gene: ABL1: DDG2P rating in original PAGE list: Probable for Congenital heart defects and skeletal malformations | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.3 | ABL1 | Rebecca Foulger reviewed gene: ABL1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | ABL1 |
Rebecca Foulger gene: ABL1 was added gene: ABL1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ABL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ABL1 were set to Congenital heart defects and skeletal malformations |