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| Congenital Heart Defect v0.409 | GATA4 | Zornitza Stark Marked gene: GATA4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.409 | GATA4 | Zornitza Stark Gene: gata4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.409 | GATA4 | Zornitza Stark Phenotypes for gene: GATA4 were changed from to Atrial septal defect 2 MIM#607941; Atrioventricular septal defect 4 MIM#614430; Ventricular septal defect 1 MIM#614429 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.408 | GATA4 | Zornitza Stark Publications for gene: GATA4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.407 | GATA4 | Zornitza Stark Mode of inheritance for gene: GATA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.406 | GATA4 | Zornitza Stark reviewed gene: GATA4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrial septal defect 2 MIM#607941, Atrioventricular septal defect 4 MIM#614430, Ventricular septal defect 1 MIM#614429; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.406 | GATA4 | Sharyn Stockmyer reviewed gene: GATA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 15810002, 12845333, 22101736, 18672102, 24000169, 29377543, 28991257; Phenotypes: Congenital heart disease - multiple types; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.315 | ZFPM2 |
Luke Tork changed review comment from: Missense variants (and sometimes truncations) in ZFPM2 segregate in individuals with multiple types of congenital heart disease. Development of cardiac related structures involve the GATA family member genes. The ZFPM2 gene encodes the FOG2 protein, a transcriptional regulator responsible for binding to GATA, as well as the deacetylation (NuRD) complex - moderating GATA-mediated gene regulation. Hence, mutations in important residues of ZFPM2 may disrupt FOG2's interaction with GATA4 or NuRD complexes, resulting in congenital heart defects [PMID:28372585] Phenotypes such as DIAPHRAGMATIC HERNIA 3; DIH3 [MIM:610187], TETRALOGY OF FALLOT; TOF [MIM:187500], and DOUBLE-OUTLET RIGHT VENTRICLE; DORV [MIM:217095] are commonly seen in patients with pathogenic ZFPM2 variants.; to: Missense variants (and sometimes truncations) in ZFPM2 segregate in individuals with multiple types of congenital heart disease. Development of cardiac related structures involve the GATA family member genes. The ZFPM2 gene encodes the FOG2 protein, a transcriptional regulator responsible for binding to GATA, as well as the deacetylation (NuRD) complex - moderating GATA-mediated gene regulation. Hence, mutations in important residues of ZFPM2 may disrupt FOG2's interaction with GATA4 or NuRD complexes, resulting in congenital heart defects [PMID:28372585] Phenotypes such as DIAPHRAGMATIC HERNIA 3; DIH3 [MIM:610187], TETRALOGY OF FALLOT; TOF [MIM:187500], and DOUBLE-OUTLET RIGHT VENTRICLE; DORV [MIM:217095] are commonly seen in patients with ZFPM2 variants. |
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| Congenital Heart Defect v0.0 | GATA4 |
Zornitza Stark gene: GATA4 was added gene: GATA4 was added to Congenital Heart Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GATA4 was set to Unknown |
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