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| Congenital Heart Defect v0.315 | CHST14 | Arthur Limawan reviewed gene: CHST14: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, arterial septal defects, coarctation of the aorta, patent ductus arteriosus, dextrocardia, tricuspid atresia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.224 | CHST14 | Zornitza Stark Marked gene: CHST14 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.224 | CHST14 | Zornitza Stark Gene: chst14 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.224 | CHST14 | Zornitza Stark Phenotypes for gene: CHST14 were changed from Atrial septal defect; Coarctation of the aorta to Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.223 | CHST14 | Zornitza Stark Classified gene: CHST14 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.223 | CHST14 | Zornitza Stark Gene: chst14 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.222 | CHST14 | Zornitza Stark reviewed gene: CHST14: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.219 | CHST14 |
Chloe Stutterd gene: CHST14 was added gene: CHST14 was added to Congenital Heart Defect. Sources: Expert list,Literature Mode of inheritance for gene: CHST14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHST14 were set to 20503305 Phenotypes for gene: CHST14 were set to Atrial septal defect; Coarctation of the aorta Penetrance for gene: CHST14 were set to unknown Review for gene: CHST14 was set to RED Added comment: Gene included in Victor Chang CHD gene list however evidence does not exist for causality of significant or isolated CHD and only reported in association with the EDS phenotype. PMID 20503305 reports one patient with EDS and moderate tricuspid valve regurgitation, prolapse of the tricuspid and mitral valves, and left-to-right shunt via a small atrial septal defect, and two patients with valvular regurgitation diagnosed in adulthood in association with the EDS phenotype. Sources: Expert list, Literature |
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