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| Genomic screening in children: BabyScreen+ v0.46 | COL3A1 |
Zornitza Stark Tag cardiac tag was added to gene: COL3A1. Tag treatable tag was added to gene: COL3A1. |
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| Genomic screening in children: BabyScreen+ v0.19 | COL3A1 | Zornitza Stark Marked gene: COL3A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic screening in children: BabyScreen+ v0.19 | COL3A1 | Zornitza Stark Gene: col3a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic screening in children: BabyScreen+ v0.19 | COL3A1 | Zornitza Stark Phenotypes for gene: COL3A1 were changed from to Ehlers-Danlos syndrome, vascular type, MIM# 130050 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic screening in children: BabyScreen+ v0.18 | COL3A1 | Zornitza Stark Classified gene: COL3A1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic screening in children: BabyScreen+ v0.18 | COL3A1 | Zornitza Stark Gene: col3a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic screening in children: BabyScreen+ v0.17 | COL3A1 |
Zornitza Stark edited their review of gene: COL3A1: Added comment: Well established gene-disease association. Assessed as 'moderate actionability' in paediatric patients by ClinGen. Approximately half of children tested for vEDS in the absence of a positive family history present with a major complication at an average age of 11 years. The majority (60%) of individuals diagnosed before age 18 are identified because of a positive family history, though 15% of children have experienced a major complication before the time of testing, and of those tested in the absence of family history, 54% had experienced a major complication. Death in the first two decades of life most commonly results from arterial rupture; death before age 20 is more commonly reported in males (3:1). Vascular rupture or dissection and gastrointestinal perforation or organ rupture are the presenting signs in 70% of adults with a COL3A1 pathogenic variant, and may present as sudden death, stroke and neurologic sequelae, acute abdomen/retroperitoneal bleeding, uterine rupture at delivery, and/or shock, with an average age of 31 for first major arterial or gastrointestinal complication. Bowel rupture is very rarely (3%) lethal. Hemoptysis can be severe and recurrent, even life threatening. Carotid cavernous sinus fistulas typically present with sudden-onset ocular symptoms and almost always require rapid intervention to save vision. It affects about 10% of individuals with vEDS with a preponderance among females. Vascular fragility is dominant in the third and fourth decade. Imaging of the entire arterial tree is recommended. Lack of consensus re aortic repair: Guidelines differ on recommendation for prophylactic aortic repair in the case of asymptomatic patients with aortic aneurysm. Some guidelines recommend patients undergo elective operation at diameters of 4.0-6.0 cm depending on location of aortic aneurysm and pregnancy anticipation status. Other guidelines take a more conservative approach, stating that due to the high risk of complications as a result of hemorrhagic tendency, tissue fragility, and poor wound healing in vEDS as well as the lack of specific data in vEDS patients, it is not possible to set threshold for surgical intervention in patients with EDS Type IV and thoracic aortic aneurysm. These guidelines state that decisions to surgically intervene should instead be based on a case-by-case basis and guided by multidisciplinary discussion. On ACMG SF list.; Changed phenotypes: Ehlers-Danlos syndrome, vascular type, MIM# 130050 |
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| Genomic screening in children: BabyScreen+ v0.4 | COL3A1 |
Zornitza Stark gene: COL3A1 was added gene: COL3A1 was added to Genomic screening in children: BabyScreen+. Sources: Expert list Mode of inheritance for gene: COL3A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Review for gene: COL3A1 was set to GREEN Added comment: Sources: Expert list |
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