TRAF7

TNF receptor associated factor 7
OMIM: 606692
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Developmental Delay Congenital Anomalies and Dysmorphic Features
R-numbers: R21, R412
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Developmental Delay, Congenital Anomalies, and Dysmorphic Features, Cardiac, facial, and digital anomalies with developmental delay, 618164
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardiac, facial, and digital anomalies with developmental delay, 618164, Global developmental delay, Abnormal heart morphology, Abnormality of digit, Abnormality of limbs
R-numbers: R100
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
craniosynostosis