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| Fetal anomalies v1.215 | KDR | Ain Roesley Classified gene: KDR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.215 | KDR | Ain Roesley Gene: kdr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.214 | KDR | Ain Roesley Marked gene: KDR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.214 | KDR | Ain Roesley Gene: kdr has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.214 | KDR | Ain Roesley Publications for gene: KDR were set to 34113005; 30232381 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.213 | KDR | Ain Roesley Mode of inheritance for gene: KDR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.212 | KDR | Ain Roesley edited their review of gene: KDR: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.212 | KDR | Ain Roesley edited their review of gene: KDR: Changed rating: GREEN; Changed publications: 34113005, 30232381, 28991257, 30232381; Set current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.212 | KDR |
Ain Roesley changed review comment from: PMID:30232381 5x families (6 affecteds) with ToF: 2x PTCs + 2x missense + 1x inframe del noted that all individuals were adults at time of assessment but known to have ToF and/or other CHD PMID:34113005; 1x family with 2 affecteds, Chet for 2x missense Sources: Literature; to: GREEN for AD RED for AR PMID:30232381 5x families (6 affecteds) with ToF: 2x PTCs + 2x missense + 1x inframe del noted that all individuals were adults at time of assessment but known to have ToF and/or other CHD PMID: 34328347; cohort of ToF, looking into LoF variants 4x identified + 1x classified as VUS (stop gain in penultimate exon) 1x stop gain citing PMID: 28991257 PMID:34113005; 1x family with 2 affecteds, Chet for 2x missense Sources: Literature |
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| Fetal anomalies v1.212 | KDR |
Ain Roesley gene: KDR was added gene: KDR was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: KDR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: KDR were set to 34113005; 30232381 Phenotypes for gene: KDR were set to Tetralogy of Fallot Added comment: PMID:30232381 5x families (6 affecteds) with ToF: 2x PTCs + 2x missense + 1x inframe del noted that all individuals were adults at time of assessment but known to have ToF and/or other CHD PMID:34113005; 1x family with 2 affecteds, Chet for 2x missense Sources: Literature |
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