Familial non syndromic congenital heart disease

Gene: TRAF7

Green List (high evidence)

TRAF7 (TNF receptor associated factor 7)
EnsemblGeneIds (GRCh38): ENSG00000131653
EnsemblGeneIds (GRCh37): ENSG00000131653
OMIM: 606692, Gene2Phenotype
TRAF7 is in 9 panels

1 review

Eleanor Williams (Genomics England Curator)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cardiac, facial, and digital anomalies with developmental delay 618164
Tags
missense
OMIM
606692
Clinvar variants
Variants in TRAF7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Nov 2019, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag missense tag was added to gene: TRAF7.

29 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: traf7 has been classified as Green List (High Evidence).

29 Nov 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: TRAF7 was added gene: TRAF7 was added to Familial non syndromic congenital heart disease. Sources: Literature Mode of inheritance for gene: TRAF7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRAF7 were set to 29961569 Phenotypes for gene: TRAF7 were set to Cardiac, facial, and digital anomalies with developmental delay 618164 Review for gene: TRAF7 was set to GREEN