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| 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 v0.315 | ZFPM2 | Luke Tork reviewed gene: ZFPM2: Rating: AMBER; Mode of pathogenicity: Other; Publications: 29018978, 25025186, 28372585, 21919901, 24702427; Phenotypes: 217095, 87500, 610187; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.199 | ZFPM2 | Zornitza Stark Marked gene: ZFPM2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.199 | ZFPM2 | Zornitza Stark Gene: zfpm2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.199 | ZFPM2 | Zornitza Stark Phenotypes for gene: ZFPM2 were changed from to Tetralogy of Fallot, MIM# 187500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.198 | ZFPM2 | Zornitza Stark Publications for gene: ZFPM2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.197 | ZFPM2 | Zornitza Stark Mode of inheritance for gene: ZFPM2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.196 | ZFPM2 | Zornitza Stark Classified gene: ZFPM2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.196 | ZFPM2 | Zornitza Stark Gene: zfpm2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.195 | ZFPM2 | Zornitza Stark reviewed gene: ZFPM2: Rating: AMBER; Mode of pathogenicity: None; Publications: 21919901, 24469719, 26959486; Phenotypes: Tetralogy of Fallot, MIM# 187500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.0 | ZFPM2 |
Zornitza Stark gene: ZFPM2 was added gene: ZFPM2 was added to Congenital Heart Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ZFPM2 was set to Unknown |
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