TGFB1

transforming growth factor beta 1
OMIM: 190180
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CAMURATI-ENGELMANN DISEASE 131300
Green
in Osteopetrosis
R-numbers: R104.4
Signed-off version 1.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Camurati-Engelmann disease 131300
R-numbers: R15
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Inflammatory bowel disease, immunodeficiency, and encephalopathy, 618213, 618213, Inflammatory bowel disease, immunodeficiency, and encephalopathy, OMIM, TGFB1 deficiency, Diseases of Immune Dysregulation, IBD, immunodeficiency, recurrent viral infections, microcephaly, and encephalopathy
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Camurati-Engelmann disease 131300, Camurati-Engelmann disease 131300