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| Congenital Heart Defect v0.522 | HEY2 | Zornitza Stark edited their review of gene: HEY2: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.522 | HEY2 | Zornitza Stark Classified gene: HEY2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.522 | HEY2 | Zornitza Stark Gene: hey2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.521 | HEY2 | Zornitza Stark edited their review of gene: HEY2: Added comment: PMID 32820247 reports a homozygous loss‑of‑function p.G108* in a Dutch isolate (3 homozygotes, 20 heterozygotes) causing severe congenital heart defects (CHD) and familial thoracic aortic aneurysm/dissection (FTAAD); functional luciferase, Western‑blot and qPCR assays show altered repression. Homozygotes (n = 3) had life-threatening congenital heart defects, while 80% of heterozygous carriers (n = 20) had cardiovascular defects, mainly CHD and FTAA of the ascending aorta.; Changed rating: AMBER; Changed publications: 40481234, 32820247 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.461 | HEY2 | Zornitza Stark Phenotypes for gene: HEY2 were changed from congenital heart defects and thoracic aortic aneurysms to Congenital heart disease, MONDO:0005453, HEY2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.460 | HEY2 | Zornitza Stark Publications for gene: HEY2 were set to PMID: 32820247 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.459 | HEY2 | Zornitza Stark reviewed gene: HEY2: Rating: RED; Mode of pathogenicity: None; Publications: 40481234; Phenotypes: Congenital heart disease, MONDO:0005453, HEY2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.87 | HEY2 | Zornitza Stark Marked gene: HEY2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.87 | HEY2 | Zornitza Stark Gene: hey2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.87 | HEY2 |
Chirag Patel gene: HEY2 was added gene: HEY2 was added to Congenital Heart Defect. Sources: Literature Mode of inheritance for gene: HEY2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: HEY2 were set to PMID: 32820247 Phenotypes for gene: HEY2 were set to congenital heart defects and thoracic aortic aneurysms Review for gene: HEY2 was set to RED Added comment: A very large family affected by CHD and familial thoracic aortic aneurysms. Trio genome sequencing was carried out in an index patient with critical CHD, and family members had either exome or Sanger sequencing. Identified homozygous loss-of-function variant (c.318_319delAG, p.G108*) in HEY2 in 3 individuals in family with critical CHD, whereas the 20 heterozygous carriers show a spectrum of CVDs (CHD and FTAA, but varying expressivity and incomplete penetrance). Other studies show that knockout of HEY2 in mice results in cardiovascular defects (CVDs), including septal defects, cardiomyopathy, a thin-walled aorta, and valve anomalies. Sources: Literature |
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