ABL1

ABL proto-oncogene 1, non-receptor tyrosine kinase
OMIM: 189980
PanelMode of inheritanceDetails
2 panels
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 1.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Congenital heart defects and skeletal malformations syndrome 617602
R-numbers: R125
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Failure to thrive in infancy (HP:0001531), Generalized joint laxity (HP:0002761), Ascending aortic dilation (HP:0004970), Congenital finger flexion contractures (HP:0005879), Hypospadias (HP:0000047), Pectus excavatum (HP:0000767), Congenital heart defects and skeletal malformations syndrome, 617602, Scoliosis (HP:0002650), Congenital septal defect (HP:0004760)