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| Congenital Heart Defect v1.9 | EGFR | chirag patel Marked gene: EGFR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v1.9 | EGFR | chirag patel Gene: egfr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v1.9 | chirag patel Copied gene EGFR from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v1.9 | EGFR |
chirag patel gene: EGFR was added gene: EGFR was added to Congenital Heart Defect. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: EGFR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EGFR were set to 24691054,36017778,26436111,32250467,32602142,40040597,29899996,9176390,7618085,7630400 Phenotypes for gene: EGFR were set to Inflammatory skin and bowel disease, neonatal 2, MONDO:0014481 |
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| Congenital Heart Defect v0.367 | KDR |
Zornitza Stark edited their review of gene: KDR: Added comment: PMID 34113005: Exome sequencing in a family with two siblings affected by ToF revealed biallelic missense variants in KDR. Studies in knock-in mice and in HEK 293T cells identified embryonic lethality for one variant when occurring in the homozygous state, and a significantly reduced VEGFR2 phosphorylation for both variants. Rare variant burden analysis conducted in a set of 1,569 patients of European descent with ToF identified a 46-fold enrichment of protein-truncating variants (PTVs) in TOF cases compared to controls (P = 7 × 10-11). At this stage MOI unclear and insufficient evidence for either MOI.; Changed rating: AMBER; Changed publications: 34113005; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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| Congenital Heart Defect v0.239 | KDR |
Chloe Stutterd gene: KDR was added gene: KDR was added to Congenital Heart Defect. Sources: Literature,Expert list Mode of inheritance for gene: KDR was set to Unknown Publications for gene: KDR were set to 34113005; 34328347; 30232381 Phenotypes for gene: KDR were set to Tetralogy of Fallot Review for gene: KDR was set to RED gene: KDR was marked as current diagnostic Added comment: Rare variants associated with ToF but lacking evidence for causality and pathogenesis. PMID 34113005 (2021): Exome sequencing in a family with two siblings affected by TOF revealed biallelic missense variants in KDR. Studies in knock-in mice and in HEK 293T cells identified embryonic lethality for one variant when occurring in the homozygous state, and a significantly reduced VEGFR2 phosphorylation for both variants. Rare variant burden analysis conducted in a set of 1,569 patients of European descent with TOF identified a 46-fold enrichment of protein-truncating variants (PTVs) in TOF cases compared to controls (P = 7 × 10-11). PMID 34328347 (2021): exome sequencing data from 811 probands with ToF, four patients had novel LoF variants in KDR demonstrating enrichment in ToF compared with controls. Segregation data not available. PMID: 30232381 (2019): KDR variants identified in four patients (two stopgain and two nonsynonymous variants) with other VUS identified in one patient. Segregation data not available. Sources: Literature, Expert list |
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