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Fetal anomalies v1.836 POLE Arina Puzriakova Tag for-review was removed from gene: POLE.
Fetal anomalies v1.836 POLE Arina Puzriakova commented on gene: POLE
Fetal anomalies v1.835 POLE Arina Puzriakova Source Expert Review Green was added to POLE.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.88 POLE Sarah Leigh Tag for-review tag was added to gene: POLE.
Fetal anomalies v1.85 POLE Catherine Snow Classified gene: POLE as Amber List (moderate evidence)
Fetal anomalies v1.85 POLE Catherine Snow Added comment: Comment on list classification: Change from Green to Amber, as requested by NHSE for signed-off panel.
Fetal anomalies v1.85 POLE Catherine Snow Gene: pole has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.26 POLE Rebecca Foulger changed review comment from: Comment on list classification: Updated rating from Amber to Green: Multiple cases of IUGR from 2 papers (PMID:25948378 and PMID:30503519). Phenotype relevant to panel, and sufficient evidence to support causation.; to: Comment on list classification: Originally added to panel as Amber based on PMID:30503519. Updated rating from Amber to Green with curation of additional paper PMID:25948378 who report a separate individual with IUGR. Phenotype relevant to panel, and sufficient evidence to support causation.
Fetal anomalies v1.26 POLE Rebecca Foulger Deleted their comment
Fetal anomalies v1.26 POLE Rebecca Foulger Classified gene: POLE as Green List (high evidence)
Fetal anomalies v1.26 POLE Rebecca Foulger Gene: pole has been classified as Green List (High Evidence).
Fetal anomalies v1.25 POLE Rebecca Foulger Classified gene: POLE as Green List (high evidence)
Fetal anomalies v1.25 POLE Rebecca Foulger Gene: pole has been classified as Green List (High Evidence).
Fetal anomalies v1.24 POLE Rebecca Foulger Classified gene: POLE as Amber List (moderate evidence)
Fetal anomalies v1.24 POLE Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Multiple cases of IUGR from 2 papers (PMID:25948378 and PMID:30503519). Phenotype relevant to panel, and sufficient evidence to support causation.
Fetal anomalies v1.24 POLE Rebecca Foulger Gene: pole has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.23 POLE Rebecca Foulger Publications for gene: POLE were set to 23230001
Fetal anomalies v1.22 POLE Rebecca Foulger commented on gene: POLE: PMID:25948378 (Thiffault et al., 2015) report a girl homozygous for a splice variant in POLE1 (c.4444 + 3A > G). Fetal anomalies on the ultrasound included intrauterine growth restriction, short long bones, suspected skull abnormalities nad oligohydamnios.
Fetal anomalies v1.22 POLE Rebecca Foulger Phenotypes for gene: POLE were changed from IUGR; severe growth failure of prenatal onset to IUGR; severe growth failure of prenatal onset; FILS syndrome, 615139; facial dysmorphism, immunodeficiency, livedo, and short stature (FILS)
Fetal anomalies v1.21 POLE Rebecca Foulger Classified gene: POLE as Amber List (moderate evidence)
Fetal anomalies v1.21 POLE Rebecca Foulger Added comment: Comment on list classification: Added as Amber awaiting Clinical Review.
Fetal anomalies v1.21 POLE Rebecca Foulger Gene: pole has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.20 POLE Rebecca Foulger gene: POLE was added
gene: POLE was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLE were set to 23230001
Phenotypes for gene: POLE were set to IUGR; severe growth failure of prenatal onset
Added comment: Added to panel based on prenatal phenotype reported in PMID:30503519: (Logan et al., 2018) report biallelic variants in POLE in 15 indivs from 12 families (mix of countries). All subjects shared the same intronic variant (c.1686+32C>G) as part of a common haplotype, in combination with different loss-of-function variants in trans. Phenotypically, affected individuals all had IUGR and severe growth failure of prenatal onset.
Sources: Literature