Familial non syndromic congenital heart disease

Gene: TRAF7

Green List (high evidence)

Comment on list classification: Rating this gene green as 6 cases reported with missense variants in this gene with heart defects.

Created: 29 Nov 2019, 11:38 a.m. | Last Modified: 29 Nov 2019, 11:38 a.m.

Panel Version: 1.51

Associated with Cardiac, facial, and digital anomalies with developmental delay (#618164) in OMIM and Developmental Delay, Congenital Anomalies, and Dysmorphic Features in Gene2Phenotype.

PMID: 29961569 - Tokita et al. 2018 - 7 cases. They report missense variants in TRAF7 in seven unrelated individuals referred for clinical exome sequencing. There was substantial phenotypic overlap between individuals, with developmental delay, congenital heart defects, limb and digital anomalies, and dysmorphic features as key features. 6 individuals had de novo variants (absence of paternal DNA in one patient did not allow confirmation of a de novo variant), with four distinct missense changes, including a c.1964G>A (p.Arg655Gln) variant in 4 individuals. The variants affect evolutionarily conserved amino acids and are located in key functional domains. Prenatal histories were notable for antenatal detection of heart anomalies (n = 3), cystic hygroma (n = 2), and two-vessel cord (n = 2). Congenital heart defects were present in six of seven patients and ranged in type and severity
Sources: Literature

Created: 29 Nov 2019, 11:37 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Cardiac, facial, and digital anomalies with developmental delay 618164

Publications

• 29961569