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Fetal anomalies

Gene: TRAF7

Green List (high evidence)

TRAF7 (TNF receptor associated factor 7)
EnsemblGeneIds (GRCh38): ENSG00000131653
EnsemblGeneIds (GRCh37): ENSG00000131653
OMIM: 606692, Gene2Phenotype
TRAF7 is in 8 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

PMID:29961569 (Tokita et al, 2018 Table 1) list Prenatal ultrasound findings in five unrelated patients with the disorder 'Cardiac, facial, and digital anomalies with developmental delay' (MIM:618164) and TRAF7 missense variants. The prenatal findings include choroid plexus cyst, IUGR and cardiac defects.
Created: 14 May 2019, 11:26 a.m.
This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 4 Apr 2019, 2:03 p.m.
New gene:disorder association added to DDG2P since PAGE download: Developmental Delay, Congenital Anomalies, and Dysmorphic Features. DDG2P rating for Developmental Delay, Congenital Anomalies, and Dysmorphic Features: confirmed. DDG2P MOI listed as: monoallelic. DDG2P Mode of pathogenicity listed as: all missense/in frame.
Created: 4 Mar 2019, 2:34 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • Developmental Delay, Congenital Anomalies, and Dysmorphic Features
  • Cardiac, facial, and digital anomalies with developmental delay, 618164
OMIM
606692
Clinvar variants
Variants in TRAF7
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

14 May 2019, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: TRAF7 were changed from Developmental Delay, Congenital Anomalies, and Dysmorphic Features to Developmental Delay, Congenital Anomalies, and Dysmorphic Features; Cardiac, facial, and digital anomalies with developmental delay, 618164

4 Mar 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: TRAF7 was added gene: TRAF7 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green 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 Developmental Delay, Congenital Anomalies, and Dysmorphic Features Mode of pathogenicity for gene: TRAF7 was set to Other - please provide details in the comments