| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital Heart Defect v0.188 | HYAL2 | Zornitza Stark Marked gene: HYAL2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.188 | HYAL2 | Zornitza Stark Gene: hyal2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.188 | HYAL2 | Zornitza Stark Classified gene: HYAL2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.188 | HYAL2 | Zornitza Stark Gene: hyal2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.187 | HYAL2 |
Krithika Murali gene: HYAL2 was added gene: HYAL2 was added to Congenital Heart Defect. Sources: Literature Mode of inheritance for gene: HYAL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HYAL2 were set to 34906488; 28081210; 23172227; 26515055 Phenotypes for gene: HYAL2 were set to Cleft lip and palate; cor triatriatum; congenital cardiac malformations Review for gene: HYAL2 was set to GREEN Added comment: Combined reported phenotypic features of 17 individuals from both studies • Hyperterlorism 13/16 • External ear anomalies – 11/14 • Cleft lip/palate – 10/17 • Micrognathia – 9/14 • Cardiac anomalies 12/17 • Frontal bossing 5/14 • Ptosis 5/13 • Pectus excavatum 7/16 • Myopia 11/11 • Cataract 2/8 • Hearing loss 7/16 Sources: Literature |
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