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| Congenital Heart Defect v0.300 | CHD7 | Zornitza Stark Marked gene: CHD7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.300 | CHD7 | Zornitza Stark Gene: chd7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.300 | CHD7 | Zornitza Stark Phenotypes for gene: CHD7 were changed from to CHARGE syndrome (MIM# 214800) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.299 | CHD7 | Zornitza Stark Publications for gene: CHD7 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.298 | CHD7 | Zornitza Stark Mode of inheritance for gene: CHD7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.295 | CHD7 |
Purvi Kakadiya changed review comment from: De novo mutations in chromodomain helicase DNA binding protein 7 (CHD7) are cause CHARGE syndrome (MIM# 214800). The clinical phenotype of CHARGE syndrome is highly variable including a wide spectrum of congenital heart defects. Thus, mutated CHD7 is associated with heart anomalies and therefore, CHD7 should be examined as part of genetic analysis (NGS gene panel) for congenital heart disease.; to: De novo mutations in chromodomain helicase DNA binding protein 7 (CHD7) are cause of CHARGE syndrome (MIM# 214800). The clinical phenotype of CHARGE syndrome is highly variable including a wide spectrum of congenital heart defects. Thus, mutated CHD7 is associated with heart anomalies and therefore, CHD7 should be examined as part of genetic analysis (NGS gene panel) for congenital heart defect. |
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| Congenital Heart Defect v0.295 | CHD7 | Purvi Kakadiya reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31833191, 15300250, 16400610, 16155193, 17334995; Phenotypes: CHARGE syndrome (MIM# 214800); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.0 | CHD7 |
Zornitza Stark gene: CHD7 was added gene: CHD7 was added to Congenital Heart Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CHD7 was set to Unknown |
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