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| Congenital Heart Defect v0.230 | ESCO2 | Zornitza Stark Marked gene: ESCO2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.230 | ESCO2 | Zornitza Stark Gene: esco2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.230 | ESCO2 | Zornitza Stark Phenotypes for gene: ESCO2 were changed from Atrial septal defect; Ventricular septal defect; Pulmonic stenosis; tricuspid regurgitation to Roberts-SC phocomelia syndrome, MIM# 268300; Atrial septal defect; Ventricular septal defect; Pulmonic stenosis; tricuspid regurgitation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.229 | ESCO2 | Zornitza Stark Classified gene: ESCO2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.229 | ESCO2 | Zornitza Stark Gene: esco2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.219 | ESCO2 |
Chloe Stutterd gene: ESCO2 was added gene: ESCO2 was added to Congenital Heart Defect. Sources: Expert list,Literature Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ESCO2 were set to 19574259; 31976146 Phenotypes for gene: ESCO2 were set to Atrial septal defect; Ventricular septal defect; Pulmonic stenosis; tricuspid regurgitation Penetrance for gene: ESCO2 were set to Complete Review for gene: ESCO2 was set to GREEN gene: ESCO2 was marked as current diagnostic Added comment: CHD reported in 8/31 patients with molecularly-confirmed Roberts syndrome (PMID 19574259). Septal defect and tricuspid regurgitation reported in one patient with molecularly-confirmed Roberts syndrome (PMID:31976146). Sources: Expert list, Literature |
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