Congenital Heart Defect

Gene: ZFPM2

I don't know

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.

Created: 20 Nov 2023, 11:04 a.m. | Last Modified: 20 Nov 2023, 11:05 a.m.

Panel Version: 0.315

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
217095; 87500; 610187

Publications

• 29018978
• 25025186
• 28372585
• 21919901
• 24702427

Mode of pathogenicity
Other

I don't know

Several of the variants reported have extraordinarily high population frequencies (hundreds to thousands of individuals in gnomad).

Created: 5 Mar 2022, 2:47 a.m. | Last Modified: 5 Mar 2022, 2:47 a.m.

Panel Version: 0.195

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Tetralogy of Fallot, MIM# 187500

Publications

• 21919901
• 24469719
• 26959486