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Congenital Heart Defect v0.106 TRAF7 Zornitza Stark Marked gene: TRAF7 as ready
Congenital Heart Defect v0.106 TRAF7 Zornitza Stark Gene: traf7 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.106 TRAF7 Zornitza Stark Classified gene: TRAF7 as Green List (high evidence)
Congenital Heart Defect v0.106 TRAF7 Zornitza Stark Gene: traf7 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.105 TRAF7 Zornitza Stark gene: TRAF7 was added
gene: TRAF7 was added to Congenital Heart Defect. Sources: Expert Review
Mode of inheritance for gene: TRAF7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRAF7 were set to 32376980
Phenotypes for gene: TRAF7 were set to Cardiac, facial, and digital anomalies with developmental delay, MIM# 618164
Review for gene: TRAF7 was set to GREEN
Added comment: More than 40 individuals reported with DD/ID and a recognizable facial gestalt (characterized in particular by blepharophimosis), short neck, pectus carinatum, digital deviations and patent ductus arteriosus. Almost all variants occur in the WD40 repeats and most are recurrent.
Sources: Expert Review