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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 |